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Menkes kinky hair syndrome

Introduction: Menkes kinky hair syndrome

Description of Menkes kinky hair syndrome

Menkes kinky hair syndrome: An inherited disorder characterized by progressive mental deterioration, kinked, twisted and brittle hair and skeletal changes. It is caused by a deficiency of copper in the cells and patients usually only survive for a few years. Also called kinky hair disease or steely hair disease.

Menkes kinky hair syndrome: 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).
Source: MeSH 2007

Menkes kinky hair syndrome: Related Topics

These medical condition or symptom topics may be relevant to medical information for Menkes kinky hair syndrome:

Terms associated with Menkes kinky hair syndrome:

Terms Similar to Menkes kinky hair syndrome:

Source - MeSH 2007

Related Topics

Source - MeSH 2007

Broader terms for Menkes kinky hair syndrome

Source - MeSH 2007

Hierarchical classifications of Menkes kinky hair syndrome

The following list attempts to classify Menkes kinky hair syndrome into categories where each line is subset of the next.

MeSH 2007 Hierarchy:

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

Interesting Medical Articles:

Medical dictionaries:

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