Glutaric aciduria in progressive choreo‐athetosis
- 1 January 1978
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 13 (1) , 77-80
- https://doi.org/10.1111/j.1399-0004.1978.tb04131.x
Abstract
The clinical symptoms in a 10‐year‐old girl with progressive dystonic cerebral palsy are described. The biochemical findings were dominated by large amounts of glutaric acid in the urine. The disorder is caused by impairment of the degradation of glutaryl‐CoA. A survey is given of the clinical and biochemical symptoms, based on the five cases reported so far. It is concluded that patients with progressive dystonic palsy should be examined for disorders in the metabolism of organic acids.This publication has 10 references indexed in Scilit:
- Glutaric aciduria: Biochemical and morphologic considerationsThe Journal of Pediatrics, 1977
- Glutaric aciduria: Clinical and laboratory findings in two brothersThe Journal of Pediatrics, 1977
- LOW MOLECULAR WEIGHT ORGANIC ACIDS IN THE URINE OF THE NEWBORNActa Paediatrica, 1977
- Glutaric aciduria type II: Report on a previously undescribed metabolic disorderClinica Chimica Acta; International Journal of Clinical Chemistry, 1976
- d‐GLYCERIC‐ACIDAEMIA AND NON‐KETOTIC HYPERGLYCINEMIAActa Paediatrica, 1976
- Glutaric aciduria: Inherited deficiency of glutaryl-CoA dehydrogenase activityBiochemical Medicine, 1975
- Glutaric aciduria; Presence of glutaconic and β-hydroxyglutaric acids in urineBiochemical Medicine, 1975
- Glutaric aciduria; A “new” disorder of amino acid metabolismBiochemical Medicine, 1975
- Mammalian Metabolism of Glutaric AcidJournal of Biological Chemistry, 1969