Menkes disease
Evidence-based neurology checklist on menkes disease: 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 Developmental features…
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
Developmental features
Hair abnormalities
Neurological features
Magnetic resonance imaging (MRI): features
Treatment
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.
