Biochemical investigations on a patient with a defect in cytosolic acetoacetyl‐CoA thiolase, associated with mental retardation
- 20 January 1984
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 7 (3) , 125-128
- https://doi.org/10.1007/bf01801770
Abstract
A severely mentally retarded boy with two normal siblings was persistently found to excrete elevated amounts of 3-hydroxybutyrate and acetoacetate. Enzyme analysis in cultured fibroblasts revealed a probable deficiency in cytosolic acetoacetyl-CoA thiolase which was about half the control activity with normal mitochondrial thiolase activities. Treatment with reduced dietary fat was initiated and a rapid reduction of the ketosis to biochemical normality was demonstrated. Shortly after initiating dietary treatment he presented with severe gastrointestinal problems and the histological features of colitis cystica superficialis. This appeared to respond to intravenous hydrocortisone therapy with an apparent complete recovery.This publication has 16 references indexed in Scilit:
- The Routine Investigation of Urinary Organic Acids in Selected Paediatric Patients: Results over a 2 1/2-Year PeriodAnnals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1984
- The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1983
- Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblastsEuropean Journal of Pediatrics, 1982
- Inhibition of hepatic S-3-hydroxy-3-methylglutaryl-CoA reductase and in vivo rates of lipogenesis by a mixture of pure cyclic monoterpenesBiochemical Pharmacology, 1982
- Acetoacetyl CoA thiolase deficiency: A cause of severe ketoacidosis in infancy simulating salicylismThe Journal of Pediatrics, 1979
- Screening for organic acidurias and amino acidopathies in newborns and childrenJournal of Inherited Metabolic Disease, 1979
- A Patient with Severe Neurologic Symptoms and Acetoacetyl-CoA Thiolase DeficiencyPediatric Research, 1977
- A rapid, sensitive, and versatile assay for protein using Coomassie brilliant blue G250Analytical Biochemistry, 1977
- Succinyl-CoA: 3-Ketoacid CoA-Transferase Deficiency. A CAUSE FOR KETOACIDOSIS IN INFANCYJournal of Clinical Investigation, 1972
- A new syndrome of ketoacidosis in infancyThe Journal of Pediatrics, 1971