Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report a clinically typical case of trichopoliodystrophy (Menkes' disease) ; Neuropathological studies showed classical alterations, particularly irregular thickenings of Purkinje cell dendrites, and some less usual modifications : presence of an ectopic neuronal layer in the cerebellar molecular layer, suggestive of Obersteiner cells stopped in their progression ; normal appearance of myelin and elastic structures of systemic arteries. Ultrastructural studies showed some calcic concretions in mitochondria of hepatocytes and Purkinje cells, and lamellar structures in the cytoplasm of Purkinje cells, probably of ergastoplasmic origin. The activity of dopamine-beta-hydroxylase (DBH, or norepinephrine synthesising enzyme) and of phenylethanolamine - N-methyltransferase (PNMT, or epinephrine synthesising enzyme) was studied in 22 samples of brain stem. Activity was reduced in 3 samples, and increased in 4 : 6 of these 7 samples were from structures involved in cardiovascular and respiratory control. These results suggest the existence of a central vegetative neuropathy, which could explain the cardiovascular and respiratory disturbances sometimes reported in Menkes' disease ; but this neurochemical study gave no account of the sleep organization alterations of the patient.
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PMID:[X - linked copper malabsorption (trichopoliodystrophy, Menkes' disease). Anatomical and neurochemical study of a case (author's transl)]. 724 52