Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient.
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.
Moore
R
R
Department of Child Health, Queen's University of Belfast, Northern Ireland.
Glasgow
J F
JF
Bingham
M A
MA
Dodge
J A
JA
Pollitt
R J
RJ
Olpin
S E
SE
Middleton
B
B
Carpenter
K
K
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
D015094:3-Hydroxyacyl CoA Dehydrogenases; D002331:Carnitine