Correction of cerebrospinal fluid copper in Menkes kinky hair disease.
نویسندگان
چکیده
A patient with Menkes Kinky Hair disease was treated with infusions of copper-histidine which resulted in normal copper values in the cerebrospinal fluid. This tends to confirm the in vitro data that copper is transported into the central nervous system complexed with histidine or other similar ligands.
منابع مشابه
Cerebral MR of Menkes kinky-hair disease.
Menkes kinky-hair disease (trichopoliodystrophy, steelyhair disease) is an X-linked neurodegenerative disorder that occurs predominantly in males. It was first described by Menkes in 1962 [1]. The characteristic clinical features are steely hair, profound retardation, spastic quadriparesis, seizures, and hypothermia. The disease is caused by an underlying defect of copper metabolism; and the se...
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Menkes disease is a multi-systemic copper metabolism disorder caused by mutations in the X-linked ATP7A gene and characterized by progressive neurodegeneration and severe connective tissue defects. The ATP7A protein is a copper (Cu)-transporting ATPase expressed in all tissues and plays a critical role in the maintenance of copper homeostasis in cells of the whole body. ATP7A participates in co...
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In the 25 y since copper deficiency was first delineated in persons with Menkes syndrome, advances in our understanding of the clinical, biochemical, and molecular aspects of this rare disorder have surpassed progress in the design of effective therapies. In contrast with purely nutritional copper deficiency, in which copper replacement can be curative, the nature of the basic defect in Menkes ...
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ورودعنوان ژورنال:
- Pediatric neurology
دوره 7 4 شماره
صفحات -
تاریخ انتشار 1991