kinky hair disease


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. Synonym(s): Menkes syndrome, trichopoliodystrophy
An X-linked recessive [MIM309400] condition caused by defective copper metabolism with copper accumulation in certain tissues—e.g., fibroblasts, kidneys, gastrointestinal mucosa—and a relative deficiency of copper in other tissues—e.g., brain and liver—accompanied by defective copper enzymes—e.g., lysyl oxidase, tyrosinase
Prognosis Death often occurs in early infancy with progressive neurologic and vascular degeneration; kinky hair also occurs in autosomal dominant trichodento-osseous syndrome and in normal people

kinky hair disease

Menke syndrome, trichopoliodystrophy Metabolic disease An X-R condition due to defective copper metabolism with copper accumulation in fibroblasts, kidneys, GI mucosa, and a relative deficiency of copper in other tissues–eg, brain and liver, accompanied by defective copper enzymes–eg, lysyl oxidase, tyrosinase Clinical FTT, seizures, hypothermia, ↑ infections, kinky hair–pili torti due to defective disulfide bond formation, seborrheic dermatitis, mental and growth retardation, myoclonic seizures, scurvy-like radiologic changes of long bones Prognosis Death in early infancy with progressive neurologic and vascular degeneration. Cf Giant axonal neuropathy, Uncombable hair syndrome, Woolly hair disease.