Atypical Riboflavin-responsive Glutaric Aciduria, and Deficient Peroxisomal Glutaryl-coa Oxidase Activity - a New Peroxisomal Disorder
(1991) Journal of Inherited Metabolic Disease — Vol. 14, n° 2, p. 165-173 (1991)
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- Abstract
- Investigation of cultured skin fibroblasts in a patient with atypical riboflavin-responsive glutaric aciduria 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.
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Bennett, MJ., Pollitt, RJ., Goodman, SI., Hale, DE., & Vamecq, J. (1991). Atypical Riboflavin-responsive Glutaric Aciduria, and Deficient Peroxisomal Glutaryl-coa Oxidase Activity - a New Peroxisomal Disorder. Journal of Inherited Metabolic Disease, 14(2), 165-173. https://doi.org/10.1007/BF01800589 (Original work published 1991)