Abstract
ABSTRACT: We describe the clinical features and biochemical findings of two patients with long-chain 3-hy-droxyacyl-CoA dehydrogenase deficiency. Both children presented with an acute metabolic crisis. Both had hypo-glycemia and excreted even-chain unsubstituted dicarbox-ylic and 3-hydroxy-dicarboxylic acids in the urine. Measurement of the enzymes of fatty acid oxidation in cultured skin fibroblasts showed low activity of long-chain 3-hy-droxyacyl-CoA dehydrogenase, but normal activity of short-chain 3-hydroxyacyl-CoA dehydrogenase. The defect was further characterized by immunoprecipitating the short-chain enzyme using monospecific antibodies. It is probably inherited as an autosomal recessive trait, inasmuch as intermediate enzyme activity was found in the fibroblasts from the parents of one child.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Jackson, S., Bartlett, K., Land, J. et al. Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. Pediatr Res 29, 406–411 (1991). https://doi.org/10.1203/00006450-199104000-00016
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1203/00006450-199104000-00016
This article is cited by
-
Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?
Pediatric Research (2020)
-
Glutamate Dehydrogenase: Structure, Allosteric Regulation, and Role in Insulin Homeostasis
Neurochemical Research (2014)
-
Acute Dilated Cardiomyopathy in a Patient with Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase
Pediatric Cardiology (2009)
-
Disorders of mitochondrial long‐chain fatty acid oxidation
Journal of Inherited Metabolic Disease (1995)
-
Impaired ketogenesis in fructose‐1,6‐bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia
Journal of Inherited Metabolic Disease (1995)