D-glyceric acidemia: biohcemical studies of a new syndrome.
Studies of a mentally retarded boy, clinically suffering from nonketotic hyperglycinemia, are reported. Using combined gas chromatography-mass spectrometry, enzyme specificity studies, and spectropolariometry D-glyceric acid in extremely elevated concentrations was demonstrated in both serum and urine (serum: 1.0-1.3 mmol/liter, urine: 33-187 mmol/liter). Hydroxypyruvic acid was not detectable in urine from this boy using a gas chromatographic method with a limit of detection of 0.3 mmol/liter. Enzyme assays of D-glyceric dehydrogenase on blood leukocytes demonstrated significantly lower activity in the patient compared with five normal children.
D000429:Alcohol Oxidoreductases / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors; D002675:Child, Preschool; D002849:Chromatography, Gas; D005988:Glyceric Acids / Q000097:blood* / Q000378:metabolism; D005998:Glycine / Q000097:blood* / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000378:metabolism; D008297:Male; D013058:Mass Spectrometry; D013577:Syndrome
D005988:Glyceric Acids; D000429:Alcohol Oxidoreductases; D005998:Glycine