Riboflavin‐responsive ethylmalonic—adipic aciduria
- 14 May 1984
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 8 (2), 67-70
- https://doi.org/10.1007/bf01801667
Abstract
A patient presenting with a condition resembling Reye's syndrome was found to have a urinary organic acid excretion pattern similar to those previously described in a single patient with ethylmalonic-adipic aciduria. The present patient responded clinically to riboflavin supplementation and his fibroblasts, when cultured in riboflavin-depleted medium, showed an abnormal reduction in the rate of butyrate oxidation.Keywords
This publication has 19 references indexed in Scilit:
- Glutaric aciduria type II: Biochemical investigation and treatment of a child diagnosed prenatallyJournal of Inherited Metabolic Disease, 1983
- Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the motherThe Journal of Pediatrics, 1983
- General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three casesClinica Chimica Acta; International Journal of Clinical Chemistry, 1983
- The urinary excretion of ethylmalonic acid: What level requires further attention?Biochemical Medicine, 1983
- In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenaseClinica Chimica Acta; International Journal of Clinical Chemistry, 1982
- Glutaric acidemia type II: Clinical, biochemical, and morphologic considerationsThe Journal of Pediatrics, 1982
- The occurrence of C6–C10‐dicarboxylic acids, ethylmalonic acid, 5‐hydroxycaproic acid, butyrylglycine, isovalerylglycine, isobutyrylglycine, 2‐methylbutyrylglycine and glutaric acid in the urine of riboflavin deficient ratsJournal of Inherited Metabolic Disease, 1982
- The dicarboxylic aciduriasPublished by Springer Nature ,1982
- Riboflavin‐responsive lipid myopathy and carnitine deficiencyNeurology, 1981
- Ethylmalonic-Adipic AciduriaJournal of Clinical Investigation, 1979