Article
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.
Molecular genetics and metabolism - 1 May 2001
Prip-Buus C, Thuillier L, Abadi N, Prasad C, Dilling L, Klasing J, Demaugre F, Greenberg C R, Haworth J C, Droin V, Kadhom N, Gobin S, Kamoun P, Girard J, Bonnefont J P
Abstract excerpt
Hepatic carnitine palmitoyltransferase 1 (CPT1A) deficiency is a rare disorder of mitochondrial fatty acid oxidation inherited as an autosomal recessive trait. Symptomatology comprises attacks of hypoketotic hypoglycemia with risk of sudden death or neurological sequelae. Only one CPT1A mutation...
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