Menkes Kinky Hair Syndrome (definition)

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Menkes Kinky Hair Syndrome

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Definition: An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)

See Also Ceruloplasmin; Protein-Lysine 6-Oxidase; Superoxide Dismutase

Other names Steely Hair Syndrome; Menkes Syndrome; Kinky Hair Syndrome; Hypocupremia, Congenital; Syndromes, Steely Hair; Syndrome, Steely Hair; Steely Hair Syndromes; Steely Hair Diseases; Menkes' Diseases; Kinky Hair Diseases; Hypocupremias, Congenital; Hair Diseases, Steely; Hair Diseases, Kinky; Diseases, Steely Hair; Diseases, Menkes'; Diseases, Kinky Hair; Disease, Steely Hair; Congenital Hypocupremias; Steely Hair Disease; Menkes' Disease

Substance	CAS Registry & name	Categories	Source
Hair defect with photosensitivity and mental retardation	0	Menkes Kinky Hair Syndrome Intellectual Disability *Photosensitivity Disorders.
Atp7a protein, rat	EC 3.6.3.4	Adenosine Triphosphatases Cation Transport Proteins Copper Menkes Kinky Hair Syndrome.
Atp7a protein, mouse	EC 3.6.3.4	Adenosine Triphosphatases Cation Transport Proteins Copper Menkes Kinky Hair Syndrome.
ATP7A protein, human	EC 3.6.3.4	Adenosine Triphosphatases Cation Transport Proteins Copper Menkes Kinky Hair Syndrome.	Nat Genet 1993 Jan;3(1):7-13

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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