Menkes syndrome

kink·y-hair dis·ease

, kinky hair disease [MIM*309400]
an inborn error of copper metabolism, onset within a few weeks of birth; manifested by short, sparse, poorly pigmented kinky hair; failure to thrive; development of seizures; spasticity; and progressive mental deterioration leading to death. X-linked recessive inheritance due to a defect of copper transport, caused by mutation in the Menkes gene (MNK), which encodes a copper-transporting ATPase on Xq.

ATP7A

A gene on chromosome Xq21.1 that encodes a transmembrane protein that functions in copper transport across membranes, localising to the trans-Golgi network.

Molecular pathology
ATP7A mutations cause Menkes disease, occipital horn syndrome and X-linked cutis laxa.

Menkes syndrome

Menkes kinky hair syndrome Metabolic disease An X-R condition linked to ↓ serum copper Clinical Progressive mental deterioration, kinked or twisted brittle hair, skeletal defects, death in infancy

kink·y-hair dis·ease

(kingk'ē-hār' di-zēz')
An inborn error of copper metabolism with onset within a few weeks of birth; manifested by short, sparse, poorly pigmented kinky hair; failure to thrive; development of seizures; spasticity; and progressive mental deterioration leading to death. X-linked recessive inheritance due to a defect of copper transport, caused by mutation in the Menkes gene (MNK), which encodes a copper-transporting ATPase on Xq.
Synonym(s): Menkes syndrome.

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 ?
My sister Catherine is a nurse at the special care baby unit at the Royal Glamorgan Hospital and had mentioned Menkes syndrome, so we had an inkling that was what was wrong, but it was a shock when he was diagnosed.
High levels of copper can be harmful and linked to Menkes syndrome and Wilson's disease, rheumatoid arthritis, gastrointestinal ulcers, epilepsy, diabetes, and cancer.
Diagnosed with Menkes syndrome, Clare now cares for the toddler, now three, around the clock.
He suffered from Menkes Syndrome, which also meant that he suffered from seizures - up to 40 a day.
Low CP can also be seen in malnutrition, malabsorption, severe liver disease, nephritic syndrome and Menkes syndrome (kinky hair disease), in which a decreased absorption of copper results in a decrease in CP.
Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency.
8) These findings are helpful in differentiating woolly hair from pili torti, monolethrix or trichorrhexis nodosa and Menkes syndrome.
Jack who suffered from the rare genetic condition Menkes Syndrome, brought much joy to the couple, who have two children of their own.
Tragically, Jack suffered from a rare and cruel genetic condition called Menkes Syndrome, which he had inherited from his mother, who has learning difficulties.
Jack Murphy, of Bradley, suffered up to 40 seizures a day after being diagnosed with Menkes Syndrome at just eight weeks old.
Jack Murphy was diagnosed with Menkes Syndrome at eight weeks old.
Menkes Syndrome is caused by a defect in the ATP7A gene.