Menkes Kinky Hair Syndrome

OMIM entry and GeneReviews entry on Menkes disease.

Menkes Disease : Finding Help & Hope – “A ten minute documentary on Menkes Disease, a rare fatal genetic disorder. AKA Kinky Hair Syndrome, it is the impaired ability to metabolize copper.”

Kaler SG. Inborn errors of copper metabolism. Handb Clin Neurol. 2013;113:1745-54.

“Menkes disease typically presents in males at 2–3 months of age with loss of previously obtained developmental milestones and the onset of hypotonia, seizures, and failure to thrive. Characteristic physical changes of the hair and facies (Fig. 180.1B), in conjunction with typical neurological findings, often suggest the diagnosis. The presenting signs and symptoms of 127 patients reported in the medical literature up to 1985 were compiled (Baerlocher and Nadal, 1988).”

Free full-text. 

Kodama H, Fujisawa C, Bhadhprasit W. Inherited copper transport disorders:
biochemical mechanisms, diagnosis, and treatment. Curr Drug Metab. 2012 Mar; 13(3):237-50.

“Diagnosis is not difficult once clinical features, such as intractable seizures, connective tissue abnormalities, subdural hemorrhage, and hair abnormalities, appear. However, treatment with copper-histidine once neurological symptoms appear is too late to prevent neurological disorders. Thus, early diagnosis and treatment is critical for the neurological prognosis of MD. Hair abnormalities and episodes of temporary hypothermia may be clues for an early diagnosis, as these are typically observed prior to the appearance of neurological symptoms. However, diagnosing MD before the age of 2 months is difficult because hair abnormalities and temporary hypothermia are also often observed in normal, premature babies. In contrast to serum copper and ceruloplasmin levels, which are significantly lower, copper concentrations in cultured fibroblasts from patients are significantly higher, and can help to provide a definitive diagnosis. Carrier and prenatal diagnosis can be made by mutation analysis once a mutation has been identified in the patient’s family [41].”

Free full-text.

Tümer Z, Møller LB. Menkes disease. Eur J Hum Genet. 2010 May;18(5):511-8.

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.

Free full-text.

More PubMed results on Menkes disease.

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