MINERAL METABOLISM AND TREATMENT OF METABOLIC DISORDERS: MENKES' KINKY HAIR DISEASE: CONFIRMATION OF COPPER DEFICIENCY
نویسندگان
چکیده
منابع مشابه
Correction of cerebrospinal fluid copper in Menkes kinky hair disease.
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.
متن کاملCerebral 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...
متن کاملMenkes' Kinky Hair disease: new considerations.
Kinky hair disease (KHD) was first described by Menkes et al.(1). Ten years later Danks et al. suggested that the primary defect is in copper transport leading to copper deficiency(2). It is a Xlinked recessive disorder. The gene for KHD is about 200 kb in size and is located on the long arm of X chromosome (Xql3.3). The cDNA has been recently sequenced and is known to code for a protein of 150...
متن کاملMenkes kinky hair disease: A case report
An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental ...
متن کاملMenkes kinky hair disease (Menkes syndrome). A case report.
Menkes disease (MD) is a rare genetic neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper-transporting ATPase in the cell organelles. Dysfunction of many copper-dependent enzymes results in low concentrations of copper in some tissues and accumulation of copper in others. We report on a boy that at the age of 2 months presented with encephalopath...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1974
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197402000-00055