1,028 results match your criteria Menkes Kinky Hair Disease


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
12 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

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

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

[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

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

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

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

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

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

[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

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

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
7 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
5 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
2 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
1 Read

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
22 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
7 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
13 Reads

Diagnostic copper imaging of Menkes disease by synchrotron radiation-generated X-ray fluorescence analysis.

Sci Rep 2016 09 15;6:33247. Epub 2016 Sep 15.

Hokkaido Medical Center for Child Health and Rehabilitation, 240-6 Kanayama 1-jo 1-chome, Teine-ku, Sapporo, Hokkaido, 006-0041, Japan.

Copper (Cu) is an indispensable metal for normal development and function of humans, especially in central nervous system (CNS). However, its redox activity requires accurate Cu transport system. ATP7A, a main Cu(2+) transporting-ATPase, is necessary to efflux Cu across the plasma membrane and synthesize cuproenzymes. Read More

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http://dx.doi.org/10.1038/srep33247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5024095PMC
September 2016
6 Reads

Opening Pandora's Box: A Chest Radiograph in a 5-Month-Old With Bronchiolitis.

Hosp Pediatr 2016 10 8;6(10):642-645. Epub 2016 Sep 8.

Department of Pediatrics, Hanshaw Pediatric Hospital Medicine Division,

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http://dx.doi.org/10.1542/hpeds.2015-0267DOI Listing
October 2016
23 Reads

Menkes disease: what a multidisciplinary approach can do.

J Multidiscip Healthc 2016 17;9:371-85. Epub 2016 Aug 17.

Department of Pediatrics; Section of Pediatric Neurology; Division of Clinical Neurological Sciences; Child Health Research Institute, Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, Canada.

Disorders of copper homeostasis are currently recognized across the life span. Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in copper-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative disorder characterized by epileptic seizures, developmental regression, failure to thrive, and an unusual hair quality (giving the condition its distinctive label of "kinky hair disease"). In this review, we trace the historical background and describe the biochemistry and physiology of copper metabolism and transport, inheritance patterns, molecular genetics, and genotype-phenotype correlations based on current understanding of the disorder. Read More

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http://dx.doi.org/10.2147/JMDH.S93454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4993560PMC
August 2016
5 Reads

The copper rush of the nineties.

Authors:
Marc Solioz

Metallomics 2016 09 1;8(9):824-30. Epub 2016 Aug 1.

Laboratory of Biochemistry and Molecular Biology, Tomsk State University, Tomsk 634050, Russian Federation.

The nineties witnessed the discovery of the copper ATPases, enzymes which transport copper across the cytoplasmic membranes of bacteria and eukaryotes. In the same decade, several other key components of copper homeostasis have also been discovered, like copper chaperones and plasma membrane copper transporters. This has finally led to a molecular understanding of two inherited human diseases related to copper: Menkes disease, manifested by systemic copper deficiency, and Wilson disease, caused by defective secretion of excess copper. Read More

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http://dx.doi.org/10.1039/c6mt00111dDOI Listing
September 2016
4 Reads

Iliac Artery Aneurysms in Menkes Disease: A Case Report.

J Med Assoc Thai 2016 Aug;99 Suppl 5:S177-81

Background: Menkes disease is a disorder of copper transportation that results in multi-systems involvement including neurological deterioration, seizure, dysmorphic facies and kinky hair. The authors report a case of Menkes disease that was complicated with bilateral iliac artery aneurysms.

Case Report: A 6-month-old Thai male infant presented with seizure, global delayed development, hypotonia and sparse, short, lightly pigmented and kinky hair. Read More

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August 2016
2 Reads

[Copper metabolism and genetic disorders].

Authors:
Norikazu Shimizu

Nihon Rinsho 2016 Jul;74(7):1151-5

Copper is one of essential trace elements. Copper deficiency lead to growth and developmental failure and/or neurological dysfunction. However, excess copper is also problems for human life. Read More

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July 2016
3 Reads

Reflections of a cupromaniac.

Metallomics 2016 09 11;8(9):813-5. Epub 2016 Jul 11.

Professor Emeritus of Biochemistry, Department of Biomedical Sciences, University of Minnesota Medical School Duluth, Duluth, MN 55812, USA.

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http://dx.doi.org/10.1039/c6mt90026gDOI Listing
September 2016
2 Reads

Copper comes of age in Melbourne.

Metallomics 2016 09 11;8(9):816-23. Epub 2016 Jul 11.

Centre for Cellular and Molecular Biology, School of Life and Environmental Sciences, Deakin University, Australia.

When we were asked to produce articles for this volume, it seemed appropriate to us to co-author an article on the history and impact of copper research in Melbourne. It is appropriate because over many years, decades in fact, we worked closely together and with Professor David Danks to identify the molecular defect in Menkes disease. This work was always carried out with the intention of understanding the nature of the copper homeostatic mechanisms and a "copper pathway" in the cell, that David had the prescience to predict must exist despite scepticism from granting agencies! He indeed inspired us to pursue research careers in this field. Read More

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http://dx.doi.org/10.1039/c6mt90022dDOI Listing
September 2016
5 Reads

Metallo-pathways to Alzheimer's disease: lessons from genetic disorders of copper trafficking.

Metallomics 2016 09 11;8(9):831-9. Epub 2016 Jul 11.

The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Melbourne, Victoria 3010, Australia.

Copper is an essential metal ion that provides catalytic function to numerous enzymes and also regulates neurotransmission and intracellular signaling. Conversely, a deficiency or excess of copper can cause chronic disease in humans. Menkes and Wilson disease are two rare heritable disorders of copper transport that are characterized by copper deficiency and copper overload, respectively. Read More

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http://dx.doi.org/10.1039/c6mt00095aDOI Listing
September 2016
2 Reads

The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria.

J Biol Chem 2016 08 16;291(32):16644-58. Epub 2016 May 16.

the Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon 97239,

Copper-transporting ATPase ATP7A is essential for mammalian copper homeostasis. Loss of ATP7A activity is associated with fatal Menkes disease and various other pathologies. In cells, ATP7A inactivation disrupts copper transport from the cytosol into the secretory pathway. Read More

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http://www.jbc.org/lookup/doi/10.1074/jbc.M116.727248
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http://dx.doi.org/10.1074/jbc.M116.727248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974379PMC
August 2016
14 Reads

Neonatal screening for Menkes disease using urine HVA/VMA ratio.

Brain Dev 2016 09 14;38(8):781. Epub 2016 May 14.

National Hospital Organization Saga National Hospital, Saga, Japan.

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http://dx.doi.org/10.1016/j.braindev.2016.03.012DOI Listing
September 2016
4 Reads

Ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis.

G Ital Dermatol Venereol 2017 02 22;152(1):58-65. Epub 2016 Mar 22.

Section of Psychiatry and Clinical Psychology, Department of Clinical and Experimental Sciences, University of Foggia, Foggia, Italy -

This article explores three neurocutaneous syndromes (NCSs), i.e. genetic disorders producing developmental abnormalities of the skin and an increased risk of neurological complications. Read More

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http://dx.doi.org/10.23736/S0392-0488.16.05083-5DOI Listing
February 2017
2 Reads

Increased apoptosis and hypomyelination in cerebral white matter of macular mutant mouse brain.

Mol Genet Metab Rep 2015 Sep 9;4:25-9. Epub 2015 Jun 9.

Department of Pediatrics, Shiga University of Medical Science, Otsu 520-2192, Japan.

Hypomyelination in developing brain is often accompanied by congenital metabolic disorders. Menkes kinky hair disease is an X-linked neurodegenerative disease of impaired copper transport, resulting from a mutation of the Menkes disease gene, a transmembrane copper-transporting p-type ATPase gene (ATP7A). In a macular mutant mouse model, the murine ortholog of Menkes gene (mottled gene) is mutated, and widespread neurodegeneration and subsequent death are observed. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2015.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750634PMC
September 2015
16 Reads

Menkes Kinky Hair Disease.

Indian Pediatr 2016 Jan;53(1):86

Swapnil Institute of Child Health, Civil Lines, Raipur, Chhattisgarh, India.

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January 2016
4 Reads

Extreme Spindles and Leukoencephalopathy after Acute Lymphoblastic Leukemia Treatment: An Undescribed Association.

Neurodiagn J 2015 Dec;55(4):235-42

We report a case of a child whose EEG demonstrated extreme spindles (ES) after acute lymphoblastic leukemia treatment. This finding has not been reported previously. In 1962, Gibbs and Gibbs described the ES EEG pattern due to its high amplitude (200 to 400 μV). Read More

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December 2015
28 Reads

The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.

Dis Model Mech 2016 Jan;9(1):25-38

Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 104, 3584 CM Utrecht, The Netherlands.

The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the genes coding for the copper transporters ATP7A and ATP7B. Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. Mutations in ATP7B lead to Wilson disease, which is characterized by a predominantly hepatic copper accumulation. Read More

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http://dx.doi.org/10.1242/dmm.020263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728329PMC
January 2016
72 Reads
6 Citations
4.973 Impact Factor

Menkes disease: importance of diagnosis with molecular analysis in the neonatal period.

Rev Assoc Med Bras (1992) 2015 Sep-Oct;61(5):407-10

Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

Menkes disease is a congenital disorder caused by changes in copper metabolism derived from mutations in the ATP7A gene. It is characterized by physical and neurological alterations. In the neonatal period, these alterations can be nonspecific, which makes early diagnosis a challenge. Read More

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http://www.scielo.br/pdf/ramb/v61n5/0104-4230-ramb-61-05-040
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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.1590/1806-9282.61.05.407DOI Listing
April 2016
23 Reads

New insights into CNS requirements for the copper-ATPase, ATP7A. Focus on "Autonomous requirements of the Menkes disease protein in the nervous system".

Am J Physiol Cell Physiol 2015 Dec 14;309(11):C719-21. Epub 2015 Oct 14.

Centre for Molecular and Medical Research and Centre for Cellular and Molecular Biology, School of Life and Environmental Sciences, Deakin University, Melbourne Campus, Burwood, Victoria, Australia; and The Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia

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http://dx.doi.org/10.1152/ajpcell.00258.2015DOI Listing
December 2015
5 Reads

Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.

Stem Cell Res Ther 2015 Sep 7;6:160. Epub 2015 Sep 7.

Department of Biological Science, Korea Advanced Institute of Science Technology (KAIST), Daejeon, 305-701, Republic of Korea.

Introduction: Bone abnormalities, one of the primary manifestations of Menkes disease (MD), include a weakened bone matrix and low mineral density. However, the molecular and cellular mechanisms underlying these bone defects are poorly understood.

Methods: We present in vitro modeling for impaired osteogenesis in MD using human induced pluripotent stem cells (iPSCs) with a mutated ATP7A gene. Read More

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http://dx.doi.org/10.1186/s13287-015-0147-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562349PMC
September 2015
7 Reads

Autonomous requirements of the Menkes disease protein in the nervous system.

Am J Physiol Cell Physiol 2015 Nov 12;309(10):C660-8. Epub 2015 Aug 12.

Department of Biochemistry, University of Missouri, Columbia, Missouri; Department of Nutrition and Exercise Physiology, University of Missouri, Columbia, Missouri; Christopher S. Bond Life Science Center, University of Missouri, Columbia, Missouri;

Menkes disease is a fatal neurodegenerative disorder arising from a systemic copper deficiency caused by loss-of-function mutations in a ubiquitously expressed copper transporter, ATP7A. Although this disorder reveals an essential role for copper in the developing human nervous system, the role of ATP7A in the pathogenesis of signs and symptoms in affected patients, including severe mental retardation, ataxia, and excitotoxic seizures, remains unknown. To directly examine the role of ATP7A within the central nervous system, we generated Atp7a(Nes) mice, in which the Atp7a gene was specifically deleted within neural and glial cell precursors without impairing systemic copper homeostasis, and compared these mice with the mottled brindle (mo-br) mutant, a murine model of Menkes disease in which Atp7a is defective in all cells. Read More

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http://ajpcell.physiology.org/content/ajpcell/early/2015/08/
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http://ajpcell.physiology.org/content/ajpcell/309/10/C660.fu
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http://ajpcell.physiology.org/lookup/doi/10.1152/ajpcell.001
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http://dx.doi.org/10.1152/ajpcell.00130.2015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652081PMC
November 2015
6 Reads

Menkes disease with discordant phenotype in female monozygotic twins.

Am J Med Genet A 2015 Nov 4;167A(11):2826-9. Epub 2015 Aug 4.

Department of Pediatrics and Neuropediatrics, SLK-Klinikum, Heilbronn, Germany.

Menkes disease (MD) is a rare X-linked recessive disorder caused by mutations in the ATP7A gene. This neurodegenerative disorder typically affects males and is characterized by impaired copper distribution and the malfunction of several copper-dependent enzymes. We report clinically discordant female monozygotic twins (MZT) with a heterozygous ATP7A mutation. Read More

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http://dx.doi.org/10.1002/ajmg.a.37276DOI Listing
November 2015
5 Reads

Management of Bladder Diverticula in Menkes Syndrome: A Case Report and Review of the Literature.

Urology 2015 Jul 4;86(1):162-4. Epub 2015 Jun 4.

Department of Urology, Louisiana State University Health Sciences Center, Children's Hospital of New Orleans, New Orleans, LA.

Menkes syndrome is a genetic disorder of copper metabolism, often with urologic complications, including bladder diverticula and vesicoureteral reflux. A 1-year-old boy with Menkes syndrome presented with recurrent urinary tract infections and incomplete bladder emptying secondary to 2 large bladder diverticula. He underwent robot-assisted excision of both diverticula with subsequent improved emptying and resolution of urinary tract infections. Read More

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http://dx.doi.org/10.1016/j.urology.2015.03.030DOI Listing
July 2015
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Case Study: Somatic Sprouts and Halo-Like Amorphous Materials of the Purkinje Cells in Huntington's Disease.

Cerebellum 2015 Dec;14(6):707-10

Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Japan.

We described a 63-year-old Japanese female with genetically confirmed Huntington's disease who showed unusual pathological findings in the cerebellum. This case exhibited typical neuropathological features as Huntington's disease, including severe degeneration of the neostriatum and widespread occurrence of ubiquitin and expanded polyglutamine-positive neuronal intranuclear and intracytoplasmic inclusions. The cerebellum was macroscopically unremarkable; however, somatic sprouts and halo-like amorphous materials of Purkinje cell with a large amount of torpedoes were noteworthy. Read More

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http://dx.doi.org/10.1007/s12311-015-0678-4DOI Listing
December 2015
9 Reads

Persistent lethargy, hypothermia, and failure to thrive in a neonate.

Hosp Pediatr 2015 Apr;5(4):234-7

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

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http://hosppeds.aappublications.org/content/5/4/234.full-tex
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http://hosppeds.aappublications.org/cgi/doi/10.1542/hpeds.20
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http://dx.doi.org/10.1542/hpeds.2014-0118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421563PMC
April 2015
4 Reads