3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal
- 1 October 1988
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 148 (1) , 76-82
- https://doi.org/10.1007/bf00441821
Abstract
3-Methylglutaconic aciduria has been found in two distinct syndromes. In one there is deficient activity of 3-methylglutaconyl coenzyme A hydratase, and the only clinical manifestation observed has been retardation of speech development. In the other, which includes a majority of the patients studied, we document that the activity of this enzyme in fibroblast extracts is normal. The phenotype of this disorder is one of profound neurological impairment with retarded psychomotor development, hypotonicity and/or spasticity, convulsions or EEG abnormalities, and sensorineural changes in the eye and ear.Keywords
This publication has 19 references indexed in Scilit:
- 3‐Methylglutaconic aciduria: Familial neonatal form with fatal onsetJournal of Inherited Metabolic Disease, 1987
- Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.Journal of Clinical Investigation, 1986
- 3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiencyEuropean Journal of Pediatrics, 1985
- 3-Hydroxy-3-Methylglutaric, 3-Methylglutaconic and 3-Methylglutaric Acids can be Non-specific Indicators of Metabolic DiseaseJournal of Inherited Metabolic Disease, 1984
- 3-Hydroxy-3-Methylglutaric AciduriaJournal of Neurogenetics, 1984
- 3-Methylglutaconic aciduria in two infantsClinica Chimica Acta; International Journal of Clinical Chemistry, 1983
- Organic acids of urine in multiple sclerosisActa Neurologica Scandinavica, 1983
- Inherited 3-methylglutaconic aciduria in two brothers—Another defect of leucine metabolismThe Journal of Pediatrics, 1982
- Studies on a child suspected of having a deficiency in 3-hydroxy-3-methylglutaryl-CoA lyaseClinica Chimica Acta; International Journal of Clinical Chemistry, 1979
- Increased urinary excretion of 3-hydroxyisovaleric acid in patients with ketoacidosisClinica Chimica Acta; International Journal of Clinical Chemistry, 1974