Menkes disease (MD) is an X-linked recessive disorder of copper deficiency caused by mutation of a copper-transporting P-type ATPase, resulting in dysfunction of copper-dependent enzymes. The patients with classical MD have severe developmental and neurological impairments due to subnormal amount of copper in the brain and a variety of symptoms such as connective tissue abnormalities, tortuosity of blood vessels and peculiar hair. Most of the classical MD patients die before the age of 3 years.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of metabolite absorption or transport
5C64 Disorders of mineral absorption or transport
H00209 Menkes syndrome
