1,497 results match your criteria Menkes Disease


Fatal Exsanguination Following Rupture of an Iliac Artery Aneurysm in an Infant With Menkes Disease.

Pediatr Dev Pathol 2019 Apr 1:1093526619841152. Epub 2019 Apr 1.

1 Department of Paediatric Surgery, John Hunter Children's Hospital, Newcastle, Australia.

Menkes disease (MD) usually presents in infancy with respiratory and neurological complications. Severe isolated vasculo-connective tissue involvement in infancy is rare, and hence the precise and timely diagnosis is difficult. We report a case of an 8-week-old male infant who succumbed to acute, severe exsanguination, and hemorrhagic shock secondary to a large retroperitoneal hematoma due to rupture of a right iliac artery aneurysm. Read More

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http://dx.doi.org/10.1177/1093526619841152DOI Listing
April 2019
1 Read

ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis.

Pediatr Int 2019 Feb 26. Epub 2019 Feb 26.

Department of Physiology, Toho University School of Medicine, Tokyo, Japan.

Background: Menkes disease (MNK; MIN 309400) is an X-linked recessive lethal disorder of copper metabolism caused by mutations in ATP7A (MIM 300011), which encodes a transmembrane copper-transporting P-type ATPase. This study assessed mutations in ATP7A in Japanese patients with MNK and their families using gene analysis.

Methods: A total of 66 patients with MNK born between 1975 and 2013 in Japan were investigated in this study. Read More

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http://doi.wiley.com/10.1111/ped.13817
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http://dx.doi.org/10.1111/ped.13817DOI Listing
February 2019
2 Reads

Biological role of copper as an essential trace element in the human organism.

Ceska Slov Farm Winter 2018;67(4):143-153

This paper presents an overview of the physiological properties of copper (Cu), an essential trace element playing an important role in the human metabolism, primarily as a cofactor of many metalloenzymes. The maintenance of Cu homeostasis is required for proper functioning of the human body. However, when the disturbance of Cu homeostasis occurs, strong pathological manifestations may develop. Read More

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April 2019
1 Read

Urological Problems in Patients with Menkes Disease.

J Korean Med Sci 2019 Jan 26;34(1):e4. Epub 2018 Dec 26.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

Background: Menkes disease (MD) is a rare X-linked hereditary multisystemic disorder that is caused by dysfunction of copper metabolism. Patients with MD typically present with progressive neurodegeneration, some connective tissue abnormalities, and characteristic "kinky" hair. In addition, various types of urological complications are frequent in MD because of underlying connective tissue abnormalities. Read More

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https://synapse.koreamed.org/DOIx.php?id=10.3346/jkms.2019.3
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http://dx.doi.org/10.3346/jkms.2019.34.e4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318444PMC
January 2019
13 Reads

Copper complexes for biomedical applications: Structural insights, antioxidant activity and neuron compatibility.

J Inorg Biochem 2019 Mar 26;192:87-97. Epub 2018 Dec 26.

Department of Chemistry, Université du Québec à Montréal, C.P. 8888, Succ. Centre-Ville, Montréal, Québec H3C 3P8, Canada; Research Chair in Enteric Dysfunctions "Allerdys", Centres Pharmaqam and CERMO-FC, Université du Québec à Montréal, C.P. 8888, Montréal, Québec H3C 3P8, Canada. Electronic address:

Copper coordinated with amino acid residues is essential for the function of many proteins. In addition, copper complexed to free l-Histidine, as [Cu(His)], is used in the treatment of the neurodegenerative Menkes disease and of cardioencephalomyopathy. This study was aimed to coordinate copper(II) with four small ligands (l-Serine, l-Histidine, Urea and Biuret) and to evaluate structural features, stability, antioxidant activity and neuronal compatibility of the resulting complexes. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01620134183040
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http://dx.doi.org/10.1016/j.jinorgbio.2018.12.010DOI Listing
March 2019
16 Reads

A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.

Mol Genet Metab 2019 Jan 11;126(1):6-13. Epub 2018 Dec 11.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Internal Medicine Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Postgraduate program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address:

Menkes disease is a rare X-linked neurodegenerative disorder caused by defect in copper metabolism. Parenteral copper supplementation has been used as a potential disease-modifying treatment of Menkes disease for decades. However, recent evidence suggests its efficacy only when treatment is started within days after birth, which also has important implications related to the techniques that enable early diagnosis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183041
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http://dx.doi.org/10.1016/j.ymgme.2018.12.005DOI Listing
January 2019
16 Reads

Novel gene mutation in a patient with Menkes disease.

Appl Clin Genet 2018 22;11:151-155. Epub 2018 Nov 22.

Health Sciences Faculty, Universidad Icesi, Cali, Colombia,

Background: Menkes disease is a congenital neurodegenerative disorder caused by gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities.

Case Presentation: We describe an infant with developmental delay, neurologic degeneration, and kinky hair. Read More

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http://dx.doi.org/10.2147/TACG.S180087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6254535PMC
November 2018
17 Reads

Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!

J Pediatr 2019 Mar 24;206:293-293.e2. Epub 2018 Oct 24.

Department of Radio Diagnosis and Imaging Postgraduate Institute of Medical Education and Research Chandigarh, India.

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http://dx.doi.org/10.1016/j.jpeds.2018.09.069DOI Listing
March 2019
1 Read
3.790 Impact Factor

Cu selective chelators relieve copper-induced oxidative stress .

Chem Sci 2018 Nov 2;9(41):7916-7930. Epub 2018 Oct 2.

Department of Chemical Sciences , Tata Institute of Fundamental Research , 1 Homi Bhabha Road, Colaba , Mumbai-400005 , India . Email:

Copper ions are essential for biological function yet are severely detrimental when present in excess. At the molecular level, copper ions catalyze the production of hydroxyl radicals that can irreversibly alter essential bio-molecules. Hence, selective copper chelators that can remove excess copper ions and alleviate oxidative stress will help assuage copper-overload diseases. Read More

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http://dx.doi.org/10.1039/c8sc04041aDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202919PMC
November 2018

Predictable and precise template-free CRISPR editing of pathogenic variants.

Nature 2018 11 7;563(7733):646-651. Epub 2018 Nov 7.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

Following Cas9 cleavage, DNA repair without a donor template is generally considered stochastic, heterogeneous and impractical beyond gene disruption. Here, we show that template-free Cas9 editing is predictable and capable of precise repair to a predicted genotype, enabling correction of disease-associated mutations in humans. We constructed a library of 2,000 Cas9 guide RNAs paired with DNA target sites and trained inDelphi, a machine learning model that predicts genotypes and frequencies of 1- to 60-base-pair deletions and 1-base-pair insertions with high accuracy (r = 0. Read More

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http://www.nature.com/articles/s41586-018-0686-x
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http://dx.doi.org/10.1038/s41586-018-0686-xDOI Listing
November 2018
46 Reads
42.351 Impact Factor

Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right time.

J Inorg Biochem 2019 Jan 23;190:98-112. Epub 2018 Oct 23.

Innlandet Hospital, Norway; Inland Norway University of Applied Sciences, Elverum, Norway. Electronic address:

Dysregulation of copper homeostasis in humans is primarily found in two genetic diseases of copper transport, Menkes and Wilson diseases, which show symptoms of copper deficiency or overload, respectively. However, both diseases are copper storage disorders despite completely opposite clinical pictures. Clinically, Menkes disease is characterized by copper deficiency secondary to poor loading of copper-requiring enzymes although sufficient body copper. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01620134183047
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http://dx.doi.org/10.1016/j.jinorgbio.2018.10.009DOI Listing
January 2019
19 Reads

ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine-β-hydroxylase.

J Biol Chem 2018 12 19;293(52):20085-20098. Epub 2018 Oct 19.

From the Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205,

The copper (Cu) transporters ATPase copper-transporting alpha (ATP7A) and ATPase copper-transporting beta (ATP7B) are essential for the normal function of the mammalian central nervous system. Inactivation of ATP7A or ATP7B causes the severe neurological disorders, Menkes disease and Wilson disease, respectively. In both diseases, Cu imbalance is associated with abnormal levels of the catecholamine-type neurotransmitters dopamine and norepinephrine. Read More

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http://dx.doi.org/10.1074/jbc.RA118.004889DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311498PMC
December 2018

Emergent embolization of a ruptured splenic artery aneurysm complicating Menkes disease.

Radiol Case Rep 2018 Dec 23;13(6):1267-1270. Epub 2018 Sep 23.

Department of Radiology, Division of Interventional Radiology, University of Washington, Seattle, WA, USA.

We report a 7-year-old boy with Menkes disease complicated by rupture of a large splenic artery aneurysm. The aneurysm was successfully embolized with microcoils and n-butyl cyanoacrylate. Further angiographic evaluation revealed marked tortuosity of mesenteric and lower extremity vasculature, including the femoral arteries bilaterally, without aneurysm formation. Read More

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http://dx.doi.org/10.1016/j.radcr.2018.08.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158999PMC
December 2018
5 Reads

Nerve conduction studies and EMG in carpal tunnel syndrome: Do they add value?

Clin Neurophysiol Pract 2018 5;3:78-88. Epub 2018 Apr 5.

Department of Neurology, Royal Prince Alfred Hospital and University of Sydney, Sydney, Australia.

This paper summarises the views of four experts on the place of neurophysiological testing (EDX) in patients presenting with possible carpal tunnel syndrome, in guiding their treatment, and in reevaluations. This is not meant to be a position paper or a literature review, and heterogeneous viewpoints are presented. Nerve conduction studies should be performed in patients presenting with possible carpal tunnel syndrome to assist diagnosis, and may need to be repeated at intervals in those managed conservatively. Read More

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http://dx.doi.org/10.1016/j.cnp.2018.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133914PMC
April 2018
1 Read

Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model.

J Inherit Metab Dis 2018 Nov 21;41(6):1285-1291. Epub 2018 Aug 21.

Laboratory for Pathophysiological and Health Science, RIKEN Center for Biosystems Dynamics Research and Center for Life Science Technologies, Kobe, Hyogo, Japan.

Introduction: Menkes disease (MD) is an X-linked recessive disorder caused by dysfunction of a copper-transporting protein, leading to severe neurodegeneration in early childhood. We investigated whether a lipophilic copper chelator, disulfiram, could enhance copper absorption from the intestine and transport copper across the blood-brain barrier in MD model mice.

Methods: Wild type and MD model mice were pretreated with disulfiram for 30 min before oral administration of CuCl. Read More

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http://dx.doi.org/10.1007/s10545-018-0239-3DOI Listing
November 2018
2 Reads

Menkes disease: Oral administration of glyoxal-bis(N(4)-methylthiosemicarbazonato)-copper(II) rescues the macular mouse.

Pediatr Res 2018 Nov 17;84(5):770-777. Epub 2018 Jul 17.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

Background: Menkes disease is a copper metabolism disorder caused by mutations in ATP7A, a copper-transporting P-type ATPase. In this study, oral copper supplementation via glyoxal-bis(N(4)-methylthiosemicarbazonato)-copper(II) (CuGTSM), a lipophilic copper complex, was investigated in male hemizygous macular (Mo) mice, a mouse model of Menkes disease.

Methods: CuGTSM was administered by oral gavage on postnatal days 5, 8, 11, 17, 23, and 32. Read More

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http://dx.doi.org/10.1038/s41390-018-0116-7DOI Listing
November 2018
15 Reads

Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model.

Mol Ther Methods Clin Dev 2018 Sep 9;10:165-178. Epub 2018 Jul 9.

Section on Translational Neuroscience, Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.

Menkes disease is a lethal neurodegenerative disorder of copper metabolism caused by mutations in an evolutionarily conserved copper transporter, ATP7A. Based on our prior clinical and animal studies, we seek to develop a therapeutic approach suitable for application in affected human subjects, using the () mouse model that closely mimics the Menkes disease biochemical and clinical phenotypes. Here, we evaluate the efficacy of low-, intermediate-, and high-dose recombinant adeno-associated virus serotype 9 (rAAV9)-ATP7A delivered to the cerebrospinal fluid (CSF), in combination with subcutaneous administration of clinical-grade copper histidinate (sc CuHis, IND #34,166). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S23290501183006
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http://dx.doi.org/10.1016/j.omtm.2018.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080355PMC
September 2018
15 Reads

Growing skull fracture at birth: a rare presentation of Menkes disease.

Arch Dis Child 2018 May 31. Epub 2018 May 31.

Paediatrics and Neonatology, Ninewells Hospital and Medical School, Dundee, UK.

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http://dx.doi.org/10.1136/archdischild-2018-314747DOI Listing
May 2018
1 Read

Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder.

BMJ Case Rep 2018 May 22;2018. Epub 2018 May 22.

Department of Radiodiagnosis and Imaging, RML Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Menkes disease is a rare neurodegenerative metabolic disease with a reported incidence of 1 per 300 000 live births. It occurs due to mutations in ATP7A gene located on X-chromosome leading to deficiency of several copper-containing enzymes. The patient presents with history of neuroregression with characteristic kinky hair. Read More

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http://dx.doi.org/10.1136/bcr-2017-223858DOI Listing
May 2018
22 Reads

Vacuolization in Myeloid and Erythroid Precursors in a child with Menkes Disease.

Turk J Haematol 2018 04 30. Epub 2018 Apr 30.

Hacettepe University, Faculty of Medicine, Department of Child Health and Diseases, Hematology Unit, Ankara, Turkey.

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http://dx.doi.org/10.4274/tjh.2018.0104DOI Listing

Differential Reactivity of Metal Binding Domains of Copper ATPases towards Cisplatin and Colocalization of Copper and Platinum.

Chemistry 2018 Jun 30;24(36):8999-9003. Epub 2018 May 30.

CAS Key Laboratory of Soft Matter Chemistry, Department of Chemistry, University of Science and Technology of China, Hefei, Anhui, 230026, China.

The Menkes (MNK) and Wilson (WLN) disease proteins are two P-type ATPases responsible for active Cu efflux. These ATPases are also associated with resistance to cisplatin. In this work, different metal-binding domains (MBDs) of ATPases (9 out of 12 domains) were compared based on their reactivity towards cisplatin. Read More

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http://dx.doi.org/10.1002/chem.201801894DOI Listing

Neuroimaging in Menkes Disease.

J Pediatr Neurosci 2017 Oct-Dec;12(4):378-382

Leicester Royal Infirmary, University Hospitals of Leicester, Leicester, United Kingdom.

Menkes disease (MD) is a rare infantile onset neurodegenerative disorder due to mutations in the X linked gene. These patients can present with failure to thrive, severe psychomotor retardation, seizures and hypopigmented hair, which is characteristic of this condition. A number of neuro-radiological findings have been reported in this condition. Read More

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http://www.pediatricneurosciences.com/text.asp?2017/12/4/378
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http://dx.doi.org/10.4103/jpn.JPN_20_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890564PMC
April 2018
4 Reads

Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration.

J Biol Chem 2018 05 29;293(20):7606-7617. Epub 2018 Mar 29.

From the Section on Translational Neuroscience, Molecular Medicine Branch, Eunice Kennedy Shriver NICHD, National Institutes of Health, Bethesda, Maryland 20892-3754

The copper-transporting ATPase ATP7A contains eight transmembrane domains and is required for normal human copper homeostasis. Mutations in the ATP7A gene may lead to infantile-onset cerebral degeneration (Menkes disease); occipital horn syndrome (OHS), a related but much milder illness; or an adult-onset isolated distal motor neuropathy. The ATP7A missense mutation T994I is located in the sixth transmembrane domain of ATP7A, represents one of the variants associated with the latter phenotype, and is associated with an abnormal interaction with p97/valosin-containing protein (VCP), a hexameric AAA ATPase (ATPase associated with diverse cellular activities) with multiple biological functions. Read More

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http://dx.doi.org/10.1074/jbc.RA117.000686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5961040PMC
May 2018
6 Reads

Somatic sprouts of the Purkinje cells in a patient with multiple system atrophy.

Neuropathology 2018 Mar 25. Epub 2018 Mar 25.

Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.

We describe the post mortem case of a 71-year-old Japanese woman diagnosed as having multiple system atrophy (MSA), showing somatic sprouting formation of Purkinje cells. The patient had suffered from frequent falling episodes and clumsiness of the left hand since the age of 67 years. Orthostatic hypotension and parkinsonism subsequently emerged. Read More

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http://dx.doi.org/10.1111/neup.12464DOI Listing
March 2018
1 Read

Multimodal LA-ICP-MS and nanoSIMS imaging enables copper mapping within photoreceptor megamitochondria in a zebrafish model of Menkes disease.

Metallomics 2018 03 6;10(3):474-485. Epub 2018 Mar 6.

Department of Chemistry, University of California, Berkeley, California, USA. and Howard Hughes Medical Institute, University of California, Berkeley, California, USA and Department of Molecular and Cellular Biology, University of California, Berkeley, California, USA and Chemical Sciences Division, Lawrence Berkeley National Laboratory, Berkeley, California, USA.

Copper is essential for eukaryotic life, and animals must acquire this nutrient through the diet and distribute it to cells and organelles for proper function of biological targets. Indeed, mutations in the central copper exporter ATP7A contribute to a spectrum of diseases, including Menkes disease, with symptoms ranging from neurodegeneration to lax connective tissue. As such, a better understanding of the fundamental impacts of ATP7A mutations on in vivo copper distributions is of relevance to those affected by these diseases. Read More

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http://dx.doi.org/10.1039/c7mt00349hDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5864565PMC
March 2018
3 Reads

Spontaneous retroperitoneal hemorrhage in Menkes disease: A rare case report.

Medicine (Baltimore) 2018 Feb;97(6):e9869

Department of Pediatric Gastroenterology, Hepatology and Nutrition.

Rationale: Menkes disease (MD), also known as Menkes kinky hair disease, is a fatal neurodegenerative disease caused by a defect in copper metabolism. The symptoms involve multiple organ systems, such as the brain, lung, gastrointestinal tract, urinary tract, connective tissue, and skin. There is currently no cure for this disease entity, and patients with the classic form of MD usually die from complications between 6 months and 3 years of age. Read More

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http://dx.doi.org/10.1097/MD.0000000000009869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944679PMC
February 2018
3 Reads

Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees.

Cell Syst 2018 Mar 31;6(3):368-380.e6. Epub 2018 Jan 31.

Department of Cell Biology, Emory University, Atlanta, GA 30322, USA. Electronic address:

Rare neurological diseases shed light onto universal neurobiological processes. However, molecular mechanisms connecting genetic defects to their disease phenotypes are elusive. Here, we obtain mechanistic information by comparing proteomes of cells from individuals with rare disorders with proteomes from their disease-free consanguineous relatives. Read More

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http://dx.doi.org/10.1016/j.cels.2018.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876136PMC
March 2018
8 Reads

[Recent Trends of Trace Element Studies in Clinical Medicine in Japan].

Authors:
Hiroko Kodama

Nihon Eiseigaku Zasshi 2018 ;73(1):75-82

Department of Health and Dietetics, Faculty of Health and Medical Sciences, Teikyo Heisei University.

The deficiency or excess intake of trace elements, including zinc, copper, selenium and iodine, has often been reported. Zinc deficiency is often observed in infants fed breast milk with low zinc concentration, individuals administered chelating medicines, athletes and patients with diabetes mellitus, hepatic cirrhosis or nephrosis syndrome. Menkes disease is associated with severe copper deficiency, and there is no effective treatment. Read More

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http://dx.doi.org/10.1265/jjh.73.75DOI Listing
February 2018
2 Reads

Disorders of metal metabolism.

Transl Sci Rare Dis 2017 Dec 18;2(3-4):101-139. Epub 2017 Dec 18.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

Trace elements are chemical elements needed in minute amounts for normal physiology. Some of the physiologically relevant trace elements include iodine, copper, iron, manganese, zinc, selenium, cobalt and molybdenum. Of these, some are metals, and in particular, transition metals. Read More

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http://dx.doi.org/10.3233/TRD-170015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5764069PMC
December 2017
6 Reads

Wilson disease and related copper disorders.

Handb Clin Neurol 2018 ;147:279-292

Department of Neurology, University of Michigan Health Systems, Ann Arbor, MI, United States. Electronic address:

Copper is a required cofactor for enzymes in critical metabolic pathways. Mutations in copper metabolism genes or abnormalities in copper metabolism result in disease from copper excess or deficiency. Wilson disease (WD) is an autosomal-recessive disease caused by mutations in the ATP7B gene which encodes a copper-transporting ATPase. Read More

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http://dx.doi.org/10.1016/B978-0-444-63233-3.00018-XDOI Listing
July 2018
3 Reads

The Pivotal Role of Copper in Neurodegeneration: A New Strategy for the Therapy of Neurodegenerative Disorders.

Mol Pharm 2018 03 2;15(3):808-820. Epub 2018 Feb 2.

Dipartimento di Farmacia-Scienze del Farmaco , Università degli Studi di Bari Aldo Moro , Via Orabona 4 , 70125 , Bari , Italy.

Copper is an essential trace element for the human body since it is a cofactor of several enzymes and proteins and plays a pivotal role in several biological functions (e.g., respiration, protection from oxidative damage, iron metabolism, etc. Read More

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http://dx.doi.org/10.1021/acs.molpharmaceut.7b00841DOI Listing
March 2018
2 Reads

Copper and Zinc Homeostasis: Lessons from .

Front Genet 2017 21;8:223. Epub 2017 Dec 21.

Department of Developmental Biology, Institute of Zoology, University of Regensburg, Regensburg, Germany.

Maintenance of metal homeostasis is crucial for many different enzymatic activities and in turn for cell function and survival. In addition, cells display detoxification and protective mechanisms against toxic accumulation of metals. Perturbation of any of these processes normally leads to cellular dysfunction and finally to cell death. Read More

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http://dx.doi.org/10.3389/fgene.2017.00223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5743009PMC
December 2017
9 Reads

Tuning the Color Palette of Fluorescent Copper Sensors through Systematic Heteroatom Substitution at Rhodol Cores.

ACS Chem Biol 2018 07 7;13(7):1844-1852. Epub 2017 Nov 7.

Department of Chemistry , University of California , Berkeley , California 94720 , United States.

Copper is an essential nutrient for sustaining life, and emerging data have expanded the roles of this metal in biology from its canonical functions as a static enzyme cofactor to dynamic functions as a transition metal signal. At the same time, loosely bound, labile copper pools can trigger oxidative stress and damaging events that are detrimental if misregulated. The signal/stress dichotomy of copper motivates the development of new chemical tools to study its spatial and temporal distributions in native biological contexts such as living cells. Read More

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http://pubs.acs.org/doi/10.1021/acschembio.7b00748
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http://dx.doi.org/10.1021/acschembio.7b00748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370296PMC
July 2018
6 Reads

Design and synthesis of a fluorescent probe based on naphthalene anhydride and its detection of copper ions.

PLoS One 2017 26;12(10):e0186994. Epub 2017 Oct 26.

School of Basic Medical Science, Xinxiang Medical University, Xinxiang, Henan Province, P. R. China.

Copper, as the third most abundant transition metal ions of human, plays an essential role in the redox reaction, signal transduction, hematopoiesis, and other physiological processes. Abnormal content of copper ions in the body will cause some diseases such as anemia, coronary heart disease, Menkes' syndrome. In this article, a new fluorescence probe L for Cu2+ was designed and synthetized by using 4-bromo-1,8 naphthalene anhydride and 2-thiophene formaldehyde as raw materials. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0186994PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5658116PMC
November 2017
15 Reads

Menkes disease: A rare disorder.

J Pak Med Assoc 2017 Oct;67(10):1609-1611

Aga Khan University Hospital, Karachi, Pakistan.

Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair. A 7-months-old, male infant presented to our outpatient department in June 2016 with history of developmental delay and seizures. Seizures started at 3 months of age and worsened progressively to clusters of extensor spasms. Read More

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October 2017
24 Reads

A novel nonsense pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype.

Mol Genet Metab Rep 2017 Dec 21;13:14-17. Epub 2017 Jul 21.

Neurology Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Ospedale San Luca, piazzale Brescia 20, 20149 Milan, Italy.

We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A novel pathogenic variant (c.4222A > T, p. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2017.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522958PMC
December 2017
24 Reads

How to use tests for disorders of copper metabolism.

Arch Dis Child Educ Pract Ed 2017 Dec 27;102(6):319-327. Epub 2017 Jul 27.

Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK.

In paediatrics, one of our main aims in the diagnostic process is to identify any treatable conditions. The copper metabolism disorder Wilson's disease (WD) is one such condition that is caused by mutations in the gene. Delay in treatment could result in irreversible disability or even death. Read More

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http://dx.doi.org/10.1136/archdischild-2016-310960DOI Listing
December 2017
11 Reads

Management of hyperplastic gastric polyp following upper gastrointestinal bleeding in infant with Menkes' disease.

World J Gastrointest Endosc 2017 Jul;9(7):341-345

Dalia Belsha, Priya Narula, Arun Urs, Mike Thomson, Centre of Paediatric Gastroenterology, Sheffield Children's Hospital, Sheffield S10 2TH, United Kingdom.

We report a case of an infant with Menkes' disease (MD) presented at the age of five months, with coffee ground vomiting, melaena with a significant drop of haemoglobin. Urgent endoscopic assessment revealed a friable bleeding trans-pyloric multi-lobulated sessile polyp. Due to further significant upper gastrointestinal bleeding, polypectomy occurred. Read More

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http://dx.doi.org/10.4253/wjge.v9.i7.341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5507826PMC
July 2017
17 Reads

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

Clin Genet 2017 Nov;92(5):548-553

Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Glostrup, Denmark.

Menkes disease (MD) is a lethal disorder characterized by severe neurological symptoms and connective tissue abnormalities; and results from malfunctioning of cuproenzymes, which cannot receive copper due to a defective intracellular copper transporting protein, ATP7A. Early parenteral copper-histidine supplementation may modify disease progression substantially but beneficial effects of long-term treatment have been recorded in only a few patients. Here we report on the eldest surviving MD patient (37 years) receiving early-onset and long-term copper treatment. Read More

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http://dx.doi.org/10.1111/cge.13083DOI Listing
November 2017
3 Reads

Evidence for widespread, severe brain copper deficiency in Alzheimer's dementia.

Metallomics 2017 08;9(8):1106-1119

School of Biological Sciences, Faculty of Science, and the Maurice Wilkins Centre for Molecular Biodiscovery, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand. and Centre for Advanced Discovery and Experimental Therapeutics, Central Manchester University Hospitals NHS Foundation Trust (CMFT), Manchester M13 9WL, UK and Centre for Brain Research, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand and Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, and Manchester Academic Health Science Centre, Manchester M13 9NT, UK.

Datasets comprising simultaneous measurements of many essential metals in Alzheimer's disease (AD) brain are sparse, and available studies are not entirely in agreement. To further elucidate this matter, we employed inductively-coupled-plasma mass spectrometry to measure post-mortem levels of 8 essential metals and selenium, in 7 brain regions from 9 cases with AD (neuropathological severity Braak IV-VI), and 13 controls who had normal ante-mortem mental function and no evidence of brain disease. Of the regions studied, three undergo severe neuronal damage in AD (hippocampus, entorhinal cortex and middle-temporal gyrus); three are less-severely affected (sensory cortex, motor cortex and cingulate gyrus); and one (cerebellum) is relatively spared. Read More

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http://dx.doi.org/10.1039/c7mt00074jDOI Listing
August 2017
9 Reads

Neuroimaging Changes in Menkes Disease, Part 1.

AJNR Am J Neuroradiol 2017 Oct 11;38(10):1850-1857. Epub 2017 May 11.

Pediatric Neurology and Neurophysiology Unit, Department of Woman and Child Health (S.S.), University Hospital of Padova, Padova, Italy.

Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. Read More

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http://www.ajnr.org/lookup/doi/10.3174/ajnr.A5186
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http://dx.doi.org/10.3174/ajnr.A5186DOI Listing
October 2017
8 Reads

Neuroimaging Changes in Menkes Disease, Part 2.

AJNR Am J Neuroradiol 2017 Oct 11;38(10):1858-1865. Epub 2017 May 11.

Pediatric Neurology and Neurophysiology Unit (I.T., M.N., S.S.), Department of Woman and Child Health, University Hospital of Padova, Padova, Italy.

This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism characterized by early, severe, and progressive neurologic involvement. According to our analysis, neurodegenerative changes and focal basal ganglia lesions already appear in the early phases of the disease. Subdural collections are less common than generally thought; however, their presence remains important because they might challenge the differential diagnosis with child abuse and might precipitate the clinical deterioration. Read More

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http://dx.doi.org/10.3174/ajnr.A5192DOI Listing
October 2017
16 Reads

Gene expression patterns in the progression of canine copper-associated chronic hepatitis.

PLoS One 2017 1;12(5):e0176826. Epub 2017 May 1.

Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands.

Copper is an essential trace element, but can become toxic when present in abundance. The severe effects of copper-metabolism imbalance are illustrated by the inherited disorders Wilson disease and Menkes disease. The Labrador retriever dog breed is a novel non-rodent model for copper-storage disorders carrying mutations in genes known to be involved in copper transport. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0176826PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411060PMC
September 2017
9 Reads

13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.

Metab Brain Dis 2017 08 28;32(4):1173-1183. Epub 2017 Apr 28.

"Mauro Baschirotto" Institute for Rare Diseases - B.I.R.D. Foundation n.p.o., via B. Bizio, 1 36023, Costozza di Longare, Vicenza, Italy.

ATP7A is a copper-transporting P-type adenosine triphosphatase whose loss of function leads to the Menkes disease, an X-linked copper metabolism multi-organ disorder (1 in 100.000 births). Here we document our experience with the ATP7A linked diseases in Italy. Read More

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http://dx.doi.org/10.1007/s11011-017-0010-8DOI Listing
August 2017
9 Reads

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

J Inherit Metab Dis 2017 Sep 13;40(5):745-747. Epub 2017 Apr 13.

Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, 2145, Australia.

Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade. Here, we further expand the list of inborn errors of metabolism associated with cutis laxa by describing the clinical presentation of a 17-month-old girl with Leigh-like syndrome due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency, a mitochondrial matrix enzyme that catalyzes the second step of the beta-oxidation spiral of fatty acids and plays an important role in amino acid catabolism, particularly valine. Read More

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http://dx.doi.org/10.1007/s10545-017-0036-4DOI Listing
September 2017
10 Reads

[Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Apr;34(2):220-223

Department of Pediatrics, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, China.

Objective: To delineate the clinical features and potential mutation of the ATP7A gene in a family affected with Menkes disease.

Methods: Clinical data of a patient and his family members were analyzed. Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assays were performed to detect the mutation of the ATP7A gene. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2017.02.015DOI Listing
April 2017
5 Reads

Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.

Metab Brain Dis 2017 08 10;32(4):1123-1131. Epub 2017 Apr 10.

Department of Pediatrics, Peking University First Hospital, No. 1 Xi'anmen Street, West District, Beijing, 100034, China.

Menkes disease (MD) is a fatal X-linked multisystem disease caused by mutations in ATP7A. In this study, clinical and genetic analysis was performed in 24 male MD patients. Development delay, seizures, kinky coarse hair, and dystonia were found in 24, 22, 24, and 24 patients, respectively. Read More

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http://dx.doi.org/10.1007/s11011-017-9985-4DOI Listing
August 2017
34 Reads

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.

Sci Rep 2017 04 7;7(1):757. Epub 2017 Apr 7.

Applied Human Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University, Rigshospitalet, Glostrup, Denmark.

Menkes disease (MD) is caused by mutations in ATP7A, encoding a copper-transporting P-type ATPase which exhibits copper-dependent trafficking. ATP7A is found in the Trans-Golgi Network (TGN) at low copper concentrations, and in the post-Golgi compartments and the plasma membrane at higher concentrations. Here we have analyzed the effect of 36 ATP7A missense mutations identified in phenotypically different MD patients. Read More

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http://dx.doi.org/10.1038/s41598-017-00618-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5428812PMC
April 2017
5 Reads

Socioeconomic and environmental determinants of dengue transmission in an urban setting: An ecological study in Nouméa, New Caledonia.

PLoS Negl Trop Dis 2017 04 3;11(4):e0005471. Epub 2017 Apr 3.

Epidemiology of Infectious Diseases Expertise and Research Unit, Institut Pasteur in New Caledonia, Institut Pasteur International Network, Nouméa, New Caledonia.

Background: Dengue is a mosquito-borne virus that causes extensive morbidity and economic loss in many tropical and subtropical regions of the world. Often present in cities, dengue virus is rapidly spreading due to urbanization, climate change and increased human movements. Dengue cases are often heterogeneously distributed throughout cities, suggesting that small-scale determinants influence dengue urban transmission. Read More

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http://dx.doi.org/10.1371/journal.pntd.0005471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395238PMC
April 2017
6 Reads

Menkes Disease Mimicking Child Abuse.

Pediatr Dermatol 2017 May 20;34(3):e132-e134. Epub 2017 Mar 20.

Division of Dermatology, Department of Medicine, University of Massachusetts Medical School, Worcester, Massachusetts.

Althouygh Menkes disease has well-recognized neurologic, developmental, and cutaneous features, the initial presentation may resemble child abuse. We describe a 5-month-old boy with multiple fractures indicative of nonaccidental trauma who was ultimately diagnosed with Menkes disease. Copper deficiency leads to connective tissue abnormalities and may result in subdural hematomas, wormian bones, cervical spine defects, rib fractures, and spurring of the long bone metaphyses. Read More

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http://dx.doi.org/10.1111/pde.13106DOI Listing
May 2017
15 Reads