Abstract
ABSTRACT.: A mentally retarded girl with epileptic seizures is described. Urinary organic acid screening revealed a massive excretion of glyceric acid, a normally barely detectable metabolite. Hyperglycinemia was not observed. Capillary gas chromatography of the O-acetylated (-)- menthyl ester of urinary glyceric acid showed the substance to have the D-configuration. The urinary D-glycerate excretion remained unaltered after an oral load with 200 mg/kg L-serine, but oral loading with fructose (1 g/kg) or dihydroxyacetone (1 g/kg) caused a sharp increase of the Dglycerate excretion. Treatment with a diet moderately restricted in fructose led to some clinical improvement as judged by subjective criteria. The metabolic lesion is thought to be located at some step of the fructose catabolic pathway, possibly at the level of hepatic triokinase deficiency.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Duran, M., Beemer, F., Bruinvis, L. et al. D-Glyceric Acidemia: An Inborn Error Associated with Fructose Metabolism. Pediatr Res 21, 502–506 (1987). https://doi.org/10.1203/00006450-198705000-00016
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1203/00006450-198705000-00016
This article is cited by
-
The small intestine shields the liver from fructose-induced steatosis
Nature Metabolism (2020)
-
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review
Metabolic Brain Disease (2019)