Structured Summary
Abstract
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)
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Classification
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MeSH Record
Synonyms
40 entry terms
- Congenital Hypocupremia
- Copper Transport Disease
- Hypocupremia, Congenital
- Kinky Hair Disease
- Kinky Hair Syndrome
- Menkea Syndrome
- Menkes Disease
- Menkes Syndrome
- Menkes' Disease
- Steely Hair Disease
- Steely Hair Syndrome
- X-Linked Copper Deficiency
- Congenital Hypocupremias
- Copper Deficiencies, X-Linked
- Copper Deficiency, X-Linked
- Copper Transport Diseases
- Deficiencies, X-Linked Copper
- Deficiency, X-Linked Copper
- Disease, Copper Transport
- Disease, Steely Hair
- Diseases, Copper Transport
- Diseases, Kinky Hair
- Diseases, Menkes'
- Diseases, Steely Hair
- Hair Diseases, Kinky
- Hair Diseases, Steely
- Hypocupremias, Congenital
- Kinky Hair Diseases
- Menkea Syndromes
- Menkes' Diseases
- Steely Hair Diseases
- Steely Hair Syndromes
- Syndrome, Menkea
- Syndrome, Steely Hair
- Syndromes, Menkea
- Syndromes, Steely Hair
- Transport Disease, Copper
- Transport Diseases, Copper
- X Linked Copper Deficiency
- X-Linked Copper Deficiencies
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
2000(1977)
MeSH Record
Previous Indexing
- Brain Diseases (1966-1976)
MeSH Hierarchy
Tree Numbers
MeSH Record
NLM Classification
WL 350
AMA Style
References
- National Library of Medicine. Menkes Kinky Hair Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D007706. http://id.nlm.nih.gov/mesh/2026/D007706
- Menkes Kinky Hair Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Menkes_disease
- Menkes Kinky Hair Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q639203