1,053 results match your criteria Menkes Kinky Hair Disease


Low function of natural killer cells in treated classic Menkes disease.

Turk J Pediatr 2020 ;62(3):498-500

Division of Pediatric Neurology, University of South Alabama Children's and Women's Hospital, Mobile, Alabama.

Background: Menkes disease (MD) is a rare lethal X-linked, multisystem disorder of copper metabolism resulting from mutations in the ATP7A gene. Features such as Ehlers- Danlos syndrome, trichopoliodystrophy, urologic and skeletal changes have been reported. We present a case of classic MD treated with copper infusions who suffered from persistent natural killer (NK) cell dysfunction. Read More

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http://dx.doi.org/10.24953/turkjped.2020.03.021DOI Listing
January 2020

An Unusual Presentation of Menkes Disease Masquerading as a Leukodystrophy with Macrocephaly.

J Pediatr Neurosci 2020 Jan-Mar;15(1):57-59. Epub 2020 Mar 18.

Department of Pediatrics, Lady Hardinge Medical College, Kalawati Saran Children's Hospital, New Delhi, India.

Background: Menkes disease is an X-linked neurodegenerative disease caused by mutation in gene, which codes for copper-transporting ATPase. It usually presents in early infancy with neuro-regression, hypotonia, seizures, and kinky hair. Magnetic resonance imaging (MRI) of the brain shows cerebral atrophy, subdural effusions, and tortuous cerebral blood vessels. Read More

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http://dx.doi.org/10.4103/JPN.JPN_141_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227752PMC

Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice.

Science 2020 05;368(6491):620-625

Department of Biochemistry and Biophysics, Texas A&M University, College Station, TX 77843, USA.

Loss-of-function mutations in the copper (Cu) transporter ATP7A cause Menkes disease. Menkes is an infantile, fatal, hereditary copper-deficiency disorder that is characterized by progressive neurological injury culminating in death, typically by 3 years of age. Severe copper deficiency leads to multiple pathologies, including impaired energy generation caused by cytochrome c oxidase dysfunction in the mitochondria. Read More

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http://dx.doi.org/10.1126/science.aaz8899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304446PMC

Sending copper where it is needed most.

Science 2020 05;368(6491):584-585

Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1126/science.abb6662DOI Listing

Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects.

Am J Med Genet A 2020 06 15;182(6):1364-1377. Epub 2020 Apr 15.

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

Classic Menkes disease is a rare X-linked recessive disorder of copper metabolism caused by pathogenic variants in the copper transporter gene, ATP7A. Untreated affected individuals suffer failure to thrive and neurodevelopmental delays that begin at 6-8 weeks of age and progress inexorably to death, often within 3 years. Subcutaneous injections of Copper Histidinate (US Food and Drug Administration IND #34,166, Orphan product designation #12-3663) are associated with improved survival and neurological outcomes, especially when commenced within a month of birth. Read More

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http://dx.doi.org/10.1002/ajmg.a.61572DOI Listing

[Genetic analysis of a male infant with Menkes disease].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Apr;37(4):479-482

Department of Children's Healthcare, Fujian Provincial Maternity and Children's Hospital, the Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350001, China.

Objective: To carry out genetic testing for a male infant suspected for Menkes disease.

Methods: Genomic DNA of the proband and his parents were extracted and subjected to family trio whole exome sequencing (WES). Microduplication and microdeletion of the ATP7A gene were detected by multiplex ligation-dependent probe amplification (MLPA). Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.04.029DOI Listing

Osseous Metaplasia in a Bladder Diverticulum in a Patient with Mosaic Menkes Disease.

Urology 2020 Feb 20;136:238-240. Epub 2019 Nov 20.

Department of Pediatric Urology, Seattle Children's Hospital, Seattle, WA; Department of Urology, University of Washington, Seattle, WA.

Menkes disease, or Kinky Hair Syndrome, is a rare disorder of copper metabolism that causes fatal neurodegenerative disease in infancy. This X-linked disorder results from mutations in the ATP7A gene. Along with neurological decline, characteristic coarse appearance of the hair is seen. Read More

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http://dx.doi.org/10.1016/j.urology.2019.10.024DOI Listing
February 2020

A severe case of Menkes disease with repeated bone fracture during the neonatal period, followed by multiple arterial occlusion.

Brain Dev 2019 Nov 3;41(10):878-882. Epub 2019 Jul 3.

Department of Pediatrics, Nagoya City West Medical Center, Nagoya, Japan.

Menkes disease (MD) is a lethal infantile neurodegenerative disorder with X-linked inheritance, characterized by progressive neurodegenerative symptoms caused by pathogenic variants in the ATP7A. Early diagnosis and treatment are important, although the diagnosis is difficult prior to 2 months of age. We present an unusually severe case of MD with skull fractures at the birth and repeated fractures during the neonatal period, with further examinations leading to diagnosis. Read More

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http://dx.doi.org/10.1016/j.braindev.2019.06.005DOI Listing
November 2019
6 Reads

Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).

Mol Genet Genomic Med 2019 08 28;7(8):e829. Epub 2019 Jun 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

Background: Koolen-de Vries (KdV) syndrome is caused by a 17q21.31 deletion leading to clinical symptoms of hypotonia and developmental delay and can present with abnormal hair texture. Menkes disease is an X-linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads to profound copper deficiency. Read More

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http://dx.doi.org/10.1002/mgg3.829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687649PMC
August 2019
7 Reads

Ratiometric two-photon microscopy reveals attomolar copper buffering in normal and Menkes mutant cells.

Proc Natl Acad Sci U S A 2019 06 3;116(25):12167-12172. Epub 2019 Jun 3.

School of Chemistry and Biochemistry, Georgia Institute of Technology, Atlanta, GA 30332-0400;

Copper is controlled by a sophisticated network of transport and storage proteins within mammalian cells, yet its uptake and efflux occur with rapid kinetics. Present as Cu(I) within the reducing intracellular environment, the nature of this labile copper pool remains elusive. While glutathione is involved in copper homeostasis and has been assumed to buffer intracellular copper, we demonstrate with a ratiometric fluorescent indicator, crisp-17, that cytosolic Cu(I) levels are buffered to the vicinity of 1 aM, where negligible complexation by glutathione is expected. Read More

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http://dx.doi.org/10.1073/pnas.1900172116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6589653PMC
June 2019
26 Reads

Long surviving classical Menkes disease treated with weekly intravenous copper therapy.

J Trace Elem Med Biol 2019 Jul 1;54:172-174. Epub 2019 May 1.

Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.

Menkes diseases (MD) is an X-linked recessive neurodegenerative disorder of copper metabolism, characterized by progressive multisystemic involvement. Death in the early childhood is usually observed in classical patients. Although a definite cure has not been established, copper replacement therapy administered parenterally may modify the severity of MD and permitted survival into adolescence. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0946672X183061
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http://dx.doi.org/10.1016/j.jtemb.2019.04.020DOI Listing
July 2019
30 Reads

Síntesis y uso de histidinato de cobre en niños con enfermedad de Menkes en México.

Gac Med Mex 2019 ;155(2):191-195

Secretaría de Salud, Centro Regional de Alta Especialidad de Chiapas, Hospital de Especialidades Pediátricas, Chiapas, México.

Menkes disease is a neurodegenerative and lethal pathology caused by gene mutations of the copper-transporting ATP-7A enzyme; it manifests itself by neurological symptoms and connective tissue changes of varying severity. Timely subcutaneous use of copper histidinate (Cu-His) is determinant for quality of life. We report the first experiences in Mexico on Cu-His synthesis and its safe use in 3 cases where hypocupremia and hypoceruloplasminemia were corroborated. Read More

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http://dx.doi.org/10.24875/GMM.18004310DOI Listing
November 2019
17 Reads

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

Pediatr Dev Pathol 2019 Oct 1;22(5):486-491. Epub 2019 Apr 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
October 2019
20 Reads

Acquired Pili Torti.

JAMA Dermatol 2019 Apr;155(4):488

Division of Dermatology, The Ohio State University College of Medicine, Columbus.

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http://dx.doi.org/10.1001/jamadermatol.2018.4677DOI Listing
April 2019
1 Read

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

Pediatr Int 2019 Apr 16;61(4):345-350. Epub 2019 Apr 16.

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
April 2019
20 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
9 Reads

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
36 Reads

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

Mol Genet Metab 2019 01 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
48 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
32 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
7 Reads
3.790 Impact Factor

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6517069PMC
November 2018
123 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 01 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
35 Reads

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

J Inherit Metab Dis 2018 11 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
9 Reads

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

Pediatr Res 2018 11 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
38 Reads

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965812PMC
May 2018
51 Reads

Vacuolization in Myeloid and Erythroid Precursors in a Child with Menkes Disease

Turk J Haematol 2019 08 30;36(3):203-204. Epub 2018 Apr 30.

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

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http://dx.doi.org/10.4274/tjh.galenos.2018.2018.0104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6682784PMC
August 2019
6 Reads

Mystery Case: Tortuous hairs and tortuous blood vessels.

Neurology 2018 03;90(13):e1174-e1176

From the Department of Pediatrics, Advanced Pediatrics Centre (I.K.S., R.S., A.R., N.S.), and Department of Radiodiagnosis and Interventional Radiology (S.V.), Post Graduate Institute of Medical Education & Research, Chandigarh, India.

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http://dx.doi.org/10.1212/WNL.0000000000005208DOI Listing
March 2018
17 Reads
8.290 Impact Factor

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
7 Reads

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
10 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
8 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
21 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
6 Reads

Pili torti, pale and elastic skin, and severe neurological impairment.

J Dtsch Dermatol Ges 2018 Mar 30;16(3):360-363. Epub 2017 Dec 30.

Department of Translational Medicine, A. Avogadro University of Eastern Piedmont, Novara, Italy.

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http://dx.doi.org/10.1111/ddg.13407DOI Listing
March 2018
4 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
52 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
20 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
8 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
12 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
38 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
16 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
10 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
70 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
9 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
25 Reads

The role of insufficient copper in lipid synthesis and fatty-liver disease.

IUBMB Life 2017 04 8;69(4):263-270. Epub 2017 Mar 8.

Department of Biological Sciences Anchorage, University of Alaska Anchorage, Anchorage, Alaska.

The essential transition metal copper is important in lipid metabolism, redox balance, iron mobilization, and many other critical processes in eukaryotic organisms. Genetic diseases where copper homeostasis is disrupted, including Menkes disease and Wilson disease, indicate the importance of copper balance to human health. The severe consequences of insufficient copper supply are illustrated by Menkes disease, caused by mutation in the X-linked ATP7A gene encoding a protein that transports copper from intestinal epithelia into the bloodstream and across the blood-brain barrier. Read More

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http://dx.doi.org/10.1002/iub.1613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5619695PMC
April 2017
18 Reads

Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease.

J Biol Chem 2017 03 24;292(10):4113-4122. Epub 2017 Jan 24.

From the School of Biological Sciences, Monash University, Clayton, Victoria 3800, Australia

Copper is an essential biometal, and several inherited diseases are directly associated with a disruption to normal copper homeostasis. The best characterized are the copper deficiency and toxicity disorders Menkes and Wilson diseases caused by mutations in the p-type Cu-ATPase genes and , respectively. Missense mutations in the C-terminal portion of have also been shown to cause distal motor neuropathy, whereas polymorphisms in are associated with increased risk of Alzheimer's disease. Read More

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http://dx.doi.org/10.1074/jbc.M116.756163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5354492PMC
March 2017
10 Reads

The History of John Hans Menkes and Kinky Hair Syndrome.

JAMA Dermatol 2017 01;153(1):54

University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1001/jamadermatol.2016.0163DOI Listing
January 2017
9 Reads

Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease.

Folia Biol (Praha) 2017 ;63(5-6):165-173

Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.

Menkes disease is a severe X-linked recessive disorder caused by a defect in the ATP7A gene, which encodes a membrane copper-transporting ATPase. Deficient activity of the ATP7A protein results in decreased intestinal absorption of copper, low copper level in serum and defective distribution of copper in tissues. The clinical symptoms are caused by decreased activities of copper-dependent enzymes and include neurodegeneration, connective tissue disorders, arterial changes and hair abnormalities. Read More

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September 2018
5 Reads

Phenotypic convergence of Menkes and Wilson disease.

Neurol Genet 2016 Dec 17;2(6):e119. Epub 2016 Nov 17.

John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.

Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter . Other mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy. About 5%-10% of the patients present with "atypical Menkes disease" characterized by longer survival, cerebellar ataxia, and developmental delay. Read More

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http://dx.doi.org/10.1212/NXG.0000000000000119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5114694PMC
December 2016
44 Reads

Unusual skin manifestations in a patient with menkes disease.

Am J Med Genet A 2016 11;170(11):3039-3040

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1002/ajmg.a.37696DOI Listing
November 2016
21 Reads

Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease: A case report.

Medicine (Baltimore) 2016 Sep;95(37):e4842

aDepartment of Pediatric Gastroenterology, Hepatology and Nutrition bDepartment of Neonatology cDepartment of Pediatric General Surgery and Urology dDepartment of Genetics and Metabolism, MacKay Children's Hospital, Taipei eDepartment of Medicine, MacKay Medical College, New Taipei City fDivision of Biochemical Genetics, Department of Medical Research, MacKay Memorial Hospital gDepartment of Early Childhood Care, National Taipei University of Nursing and Health Sciences hMacKay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan.

Background: Menkes disease (MD) is a disorder of copper metabolism due to ATP7A gene mutation that leads to severe copper deficiency. Deformed blood vessels can be found in many parts of the body, and intracranial hematoma is generally reported.

Methods: We report a Taiwanese boy with MD who had recurrent spontaneous subserosal hematoma of ileum presenting as intestinal obstruction, with the 2 episodes 23 months apart. Read More

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http://dx.doi.org/10.1097/MD.0000000000004842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402584PMC
September 2016
31 Reads