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