Abstract
Summary: In a case of dihydrolipoyl dehydrogenase deficiency, there was not only an elevation of lactate and α-ketoglutarate but also of branched chain amino acids. The levels of branched-chain amino acids varied from the normal range to three times the upper limit of normal during the patient's lifetime, and alloisoleucine was detectable at all times. Examination of postmortem tissues revealed that the activity of branched-chain keto acid dehydrogenases was between zero and 10% of that in control tissues. It is suggested that the multiple defects seen in oxidative decarboxylation in this patient is the consequence of a single genetic deletion of an enzyme common to pyruvate dehydrogenase, α-ketoglutarate dehydrogenase, and branched-chain keto acid dehydrogenases.
Speculation: The dihydrolipoyl dehydrogenase component of pyruvate, α-ketoglutarate, and branched-chain keto acid dehydrogenases is genetically and biochemically a single entity.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Taylor, J., Robinson, B. & Sherwood, W. A Defect in Branched-Chain Amino Acid Metabolism in a Patient with Congenital Lactic Acidosis due to Dihydrolipoyl Dehydrogenase Deficiency. Pediatr Res 12, 60–62 (1978). https://doi.org/10.1203/00006450-197801000-00018
Issue Date:
DOI: https://doi.org/10.1203/00006450-197801000-00018
This article is cited by
-
Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease
Metabolic Brain Disease (2018)
-
Gene for lipoamide dehydrogenase maps to human chromosome 7
Somatic Cell and Molecular Genetics (1988)
-
Cell culture studies on patients with mitochondrial diseases: Molecular defects in pyruvate dehydrogenase
Journal of Bioenergetics and Biomembranes (1988)
-
Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction
European Journal of Pediatrics (1986)
-
Lactic acidaemia
Journal of Inherited Metabolic Disease (1984)