Menkes disease

(redirected from Copper transport disease)

Menkes disease

(mĕng′kəs)
n.
A sex-linked metabolic defect in copper metabolism, characterized by sparse, brittle, twisted hair, failure to thrive, lack of muscle tone, seizures, and progressive deterioration of the brain.

Menkes disease

An X-linked recessive condition (OMIM:309400) linked to decreased serum copper.

Clinical findings
Progressive mental deterioration, kinked or twisted brittle hair, skeletal defects, death in infancy.

Molecular pathology
Defects in ATP7A, which encodes a protein that  transports copper across membranes, causes Menkes disease.

Menkes disease

(men'kaz)
Metabolic defect resulting from a mutation on the X chromosome that alters the transport of copper within the human body, resulting in neurological degeneration, connective tissue disorders, and premature death.
See: kinky hair disease

Menkes,

John H., U.S. pediatric neurologist, 1928–.
Menkes disease - Synonym(s): kinky-hair syndrome
Menkes syndrome - Synonym(s): kinky-hair syndrome