Factsheet
Condition:
Menkes disease
Inheritance:
X-linked recessive
Genetic Etiology:
Mutation in ATP7A gene, encoding copper-transporting ATPase 1
Frequency:
Approximately 1/100,000 births
Clinical features:
Affected individuals have impaired copper absorption and consequent reduced activity of copper-containing enzymes. Classically, the disorder presents in infants or young children with neurological regression, seizures, failure to thrive, short, sparse, and kinky hair, with death by three years. A milder form is occipital horn syndrome, due to calcifications in the attachment of the trapezius and sternocleidomastoid muscles to the occipital bone, along with joint laxity and tortuous blood vessels.
Management:
Supportive care; subcutaneous injection of copper.
Genetic counseling:
Based on X-linked recessive inheritance; molecular genetic testing available.