title: Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient.
abstract: Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD), the third enzyme of the mitochondrial beta-oxidation pathway, carries out the dehydrogenation of 3-hydroxyacyl-CoA compounds of 12-18 carbon length. To date only nine cases of LCHAD deficiency have been documented. We report a further patient who as a neonate developed non-specific gastrointestinal symptoms and at 5 months of age cardiomyopathy, recurrent hypoketotic hypoglycaemia and gross alterations of plasma carnitine fractions. Dietary management with medium chain triglycerides led rapidly to clinical improvement. There was a close correlation between the clinical condition, plasma carnitine fractions and cardiac function. At 2 years of age she is developing normally.
authors.affiliation: Department of Child Health, Queen's University of Belfast, Northern Ireland.
authors.forename: R
authors.initials: R
authors.lastname: Moore
authors.forename: J F
authors.initials: JF
authors.lastname: Glasgow
authors.forename: M A
authors.initials: MA
authors.lastname: Bingham
authors.forename: J A
authors.initials: JA
authors.lastname: Dodge
authors.forename: R J
authors.initials: RJ
authors.lastname: Pollitt
authors.forename: S E
authors.initials: SE
authors.lastname: Olpin
authors.forename: B
authors.initials: B
authors.lastname: Middleton
authors.forename: K
authors.initials: K
authors.lastname: Carpenter
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D009202:Cardiomyopathies / Q000209:etiology; D002331:Carnitine / Q000097:blood; D005260:Female; D005767:Gastrointestinal Diseases / Q000209:etiology; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology*; D012008:Recurrence
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases; D002331:Carnitine