Menkes disease
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Menkes disease. This is caused by mutations in the ATP7A gene. The gene encodes a copper-transporting P-type ATPase. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the ATP7A gene
- The gene encodes a copper-transporting P-type ATPase
- The transmission is X-linked recessive
- The mutation results in low serum copper and ceruloplasmin
Impairments
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Developmental features
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Hair abnormalities
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Neurological features
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Magnetic resonance imaging (MRI): features
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Treatment
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References
- Bandmann O, Weiss KH, Kaler SG. Wilson’s disease and other neurological copper disorders. Lancet Neurol 2015; 14:103-113.
- Desai V, Kaler. SG. Role of copper in human neurological disorders. Am J Clin Nutr 2008; 88(suppl):855S–858S.
- Kaler SG. Diagnosis and therapy of Menke's syndrome, a genetic form of copper deficiency. Am J Clin Nutr 1998; 67 (5 Suppl):1029S-1033S.
