Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder.

Abstract

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.

• Authors: M J Bennett, R J Pollitt, S I Goodman, D E Hale, J Vamecq
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 14 Issue 2 Pg. 165-73 ( 1991) ISSN: 0141-8955 [Print] United States
• PMID: 1909402 (Publication Type: Case Reports, Journal Article)

Chemical References

• Fatty Acids
• Glutarates
• Oxidoreductases
• glutaryl coenzyme A oxidase
• Acyl-CoA Oxidase
• glutaric acid
• Lysine
• Riboflavin

Topics

• Acyl-CoA Oxidase
• Cells, Cultured
• Child, Preschool
• Fatty Acids (metabolism)
• Female
• Fibroblasts (enzymology)
• Gas Chromatography-Mass Spectrometry
• Glutarates (urine)
• Humans
• Lysine
• Microbodies (enzymology)
• Oxidation-Reduction
• Oxidoreductases (deficiency, metabolism)
• Riboflavin (pharmacology)