Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder.
Investigation of cultured skin fibroblasts in a patient with atypical riboflavin-responsive glutaric acidura revealed a marked deficiency of peroxisomal glutaryl-CoA oxidase. This is the first patient to be reported with glutaric aciduria caused by a peroxisomal rather than a mitochondrial dysfunction. This enzyme appears to be specific for glutaryl-CoA, as lauryl-CoA and dodecanedioyl-CoA oxidase activities in the fibroblasts were both normal. The urinary excretion of glutaric acid (0.5 mmol mmol creatinine-1) suggests that the flux through this pathway is considerably less than the mitochondrial flux through glutaryl-CoA dehydrogenase. The elevated glutaric acid excretion (to 0.8 mmol mmol creatinine-1) in response to lysine loading suggests that lysine is a precursor.
Bennett
M J
MJ
Department of Chemical Pathology, Children's Hospital, Sheffield, UK.
Pollitt
R J
RJ
Goodman
S I
SI
Hale
D E
DE
Vamecq
J
J
D042962:Acyl-CoA Oxidase; D002478:Cells, Cultured; D002675:Child, Preschool; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D008401:Gas Chromatography-Mass Spectrometry; D005977:Glutarates / Q000652:urine*; D006801:Humans; D008239:Lysine; D008830:Microbodies / Q000201:enzymology*; D010084:Oxidation-Reduction; D010088:Oxidoreductases / Q000172:deficiency* / Q000378:metabolism; D012256:Riboflavin / Q000494:pharmacology*
D005227:Fatty Acids; D005977:Glutarates; D010088:Oxidoreductases; C042428:glutaryl coenzyme A oxidase; D042962:Acyl-CoA Oxidase; C035736:glutaric acid; D008239:Lysine; D012256:Riboflavin