Menkes disease

(redirected from kinky hair syndrome)

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
References in periodicals archive ?
Determination of apoceruloplasmin by radioimmunoassay in nutritional copper deficiency, Menkes' kinky hair syndrome, Wilson's disease, and umbilical cord blood.
Sufferers may also have strikingly peculiar hair, which is kinky, colourless or steel-coloured, and breaks easily, giving the disease its other names - kinky hair disease and kinky hair syndrome.
This paper will focus on two diseases associated with the essential trace element copper: Wilson's Disease (WD) and Menkes' Kinky Hair Syndrome (MKHS).
Copper deficiency has been documented in association with malnourished infants, premature infants, long term intravenous nutritional solutions, malabsorption syndromes, and in Menkes' Kinky Hair Syndrome (Burtis, Ashwood, & Bruns, 2006).