Article
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.
Pediatric research - 1 Mar 2001
Bouchard L, Robert M F, Vinarov D, Stanley C A, Thompson G N, Morris A, Leonard J V, Quant P, Hsu B Y, Boneh A, Boukaftane Y, Ashmarina L, Wang S, Miziorko H, Mitchell G A
Abstract excerpt
Hereditary deficiency of mitochondrial HMG-CoA synthase (mHS, OMIM 600234) is a poorly defined, treatable, probably underdiagnosed condition that can cause episodes of severe hypoketotic hypoglycemia. We present clinical follow-up and molecular analysis of the two known mHS-deficient patients. The diagnosis of mHS deficiency is challenging because the symptoms and metabolite pattern are not specific. Moreover,...
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