Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
The mitochondrial respiratory chain and the fatty acid oxidation cycle are theoretically interdependent on each other for normal function. We describe a patient with complex I deficiency who had clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency including liver failure, cardiomyopathy, and consistent urine organic acid pattern. Patients with features of either a respiratory chain or fatty acid oxidation disorder should have the defect characterized biochemically because of the implications with respect to potential therapy and genetic counseling.
Enns
G M
GM
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, CA 94143-0748, USA.
Bennett
M J
MJ
Hoppel
C L
CL
Goodman
S I
SI
Weisiger
K
K
Ohnstad
C
C
Golabi
M
M
Packman
S
S
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D004579:Electron Transport; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*
D005227:Fatty Acids; D015094:3-Hydroxyacyl CoA Dehydrogenases; D009247:NADH, NADPH Oxidoreductases