Article
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.
Molecular genetics and metabolism - 1 Nov 2005
Korman Stanley H, Waterham Hans R, Gutman Alisa, Jakobs Cornelis, Wanders Ronald J A
Abstract excerpt
Detection of hepatic carnitine palmitoyltransferase I (CPT IA) deficiency by metabolite screening may be problematic. The urine organic acid profile is generally said to be normal and no abnormal or increased acylcarnitine species are evident on bloodspot tandem MS examination. We diagnosed CPT IA deficiency presenting with acute encephalopathy +/- hypoglycemia and hepatomegaly in one Bukharan Jewish and two...
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