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European Journal of Human Genetics :... May 2010Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar... (Review)
Review
Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms.
Topics: Adenosine Triphosphatases; Animals; Cation Transport Proteins; Copper; Copper-Transporting ATPases; Disease Models, Animal; Humans; Menkes Kinky Hair Syndrome; Mutation; Phenotype
PubMed: 19888294
DOI: 10.1038/ejhg.2009.187 -
AJNR. American Journal of Neuroradiology 1993
Topics: Humans; Infant; Male; Menkes Kinky Hair Syndrome
PubMed: 8517376
DOI: No ID Found -
Indian Pediatrics Jan 2016
Topics: Cerebral Veins; Humans; Infant; Male; Menkes Kinky Hair Syndrome
PubMed: 26840692
DOI: No ID Found -
Indian Journal of Pediatrics Oct 2005
Topics: Cerebral Angiography; Ceruloplasmin; Copper; Histidine; Humans; Infant; Infant, Low Birth Weight; Infant, Newborn; Injections, Subcutaneous; Male; Menkes Kinky Hair Syndrome; Organometallic Compounds; Prognosis
PubMed: 16272669
DOI: 10.1007/BF02731126 -
Pediatric Dermatology Apr 1984Menkes's syndrome (trichopoliodystrophy) is an x-linked, recessive genodermatosis characterized by hair defects, severe retardation, convulsions, progressive neurologic...
Menkes's syndrome (trichopoliodystrophy) is an x-linked, recessive genodermatosis characterized by hair defects, severe retardation, convulsions, progressive neurologic deterioration, and early death. Recent studies in copper metabolism suggest that Menkes's syndrome may be a storage disease in which copper is irreversibly trapped in some tissues by metallothionein, a heavy-metal-binding protein. This then gives rise to a deficiency elsewhere, particularly in the brain, causing irreversible damage in the fetus. We present a patient with Menkes's syndrome and review the clinical and metabolic aspects of this disease.
Topics: Brain Diseases, Metabolic; Copper; Humans; Infant; Male; Menkes Kinky Hair Syndrome
PubMed: 6494070
DOI: 10.1111/j.1525-1470.1984.tb01135.x -
Giornale Italiano Di Dermatologia E... Feb 2017This article explores three neurocutaneous syndromes (NCSs), i.e. genetic disorders producing developmental abnormalities of the skin and an increased risk of... (Review)
Review
This article explores three neurocutaneous syndromes (NCSs), i.e. genetic disorders producing developmental abnormalities of the skin and an increased risk of neurological complications. In this review, different aspects of ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis are examined: clinical features, genetic defect, mutation spectrum, pathogenesis, and neurobiological basis; indications for clinical practice are also provided to the readers. The aim of this review is to stress the importance of cooperation among dermatologists, neurologists and psychiatrists, in order to provide patients suffering from these diseases with timely diagnosis and targeted treatments.
Topics: Ataxia Telangiectasia; Cooperative Behavior; Humans; Interdisciplinary Communication; Melanosis; Menkes Kinky Hair Syndrome; Neurocutaneous Syndromes
PubMed: 27002302
DOI: 10.23736/S0392-0488.16.05083-5 -
JAMA Dermatology Jan 2017
Topics: Dermatology; History, 20th Century; History, 21st Century; Menkes Kinky Hair Syndrome; Neurology; Pediatrics
PubMed: 28114526
DOI: 10.1001/jamadermatol.2016.0163 -
Nutrition Reviews Nov 1981
Review
Topics: Animals; Brain Diseases, Metabolic; Copper; Humans; Menkes Kinky Hair Syndrome; Metallothionein; Mice; Mice, Mutant Strains; Oxidoreductases
PubMed: 7031523
DOI: 10.1111/j.1753-4887.1981.tb06723.x -
Dermatology Online Journal Nov 2012Menkes kinky hair syndrome, also known as trichopoliodystrophy, is a rare X-linked recessive, progressive neurodegenerative disorder characterized clinically by...
Menkes kinky hair syndrome, also known as trichopoliodystrophy, is a rare X-linked recessive, progressive neurodegenerative disorder characterized clinically by progressive psychomotor impairment, treatment-refractory seizures, and hair shaft abnormalities, most commonly pilli torti. The condition is related to a mutation in a copper transporting gene, located in the X-chromosome, resulting in deficiency of copper dependent enzymes. The diagnosis can be confirmed by a low plasma level of copper and ceruloplasmin. The prognosis of classical Menkes disease is poor. We report a case of Menkes kinky hair disease with characteristic clinical, laboratory, and radiological findings with significant macrocephaly (above 95th percentile for age). Reporting of this case is of significance because of its rarity and association with significant macrocephaly.
Topics: Humans; Infant; Male; Menkes Kinky Hair Syndrome
PubMed: 23217945
DOI: No ID Found -
Science (New York, N.Y.) May 2020Loss-of-function mutations in the copper (Cu) transporter ATP7A cause Menkes disease. Menkes is an infantile, fatal, hereditary copper-deficiency disorder that is...
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. Here we report that the small molecule elesclomol escorted copper to the mitochondria and increased cytochrome c oxidase levels in the brain. Through this mechanism, elesclomol prevented detrimental neurodegenerative changes and improved the survival of the mottled-brindled mouse-a murine model of severe Menkes disease. Thus, elesclomol holds promise for the treatment of Menkes and associated disorders of hereditary copper deficiency.
Topics: Animals; Biological Transport; Brain; Cell Line; Copper; Copper Transporter 1; Disease Models, Animal; Electron Transport Complex IV; Hydrazines; Male; Menkes Kinky Hair Syndrome; Mice; Mice, Knockout; Mitochondria; Neurodegenerative Diseases; Rats
PubMed: 32381719
DOI: 10.1126/science.aaz8899