D-Glyceric acidemia in a patient with chronic metabolic acidosis.
A patient is described with glyceric acidemia and glyceric aciduria. The main clinical problems in infancy were severe metabolic acidosis and failure to thrive. The patient needs permanent treatment with bicarbonate. Hyperglycinemia, as described in the first case discovered elsewhere, was not present. The glyceric acid was found to have the D-configuration, as analyzed by capillary gas chromatography of its di-O-acetyl-l-menthyl ester. The abnormality may result from a defect in serine metabolism.
D000138:Acidosis / Q000209:etiology / Q000378:metabolism*; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000378:metabolism*; D002908:Chronic Disease; D003404:Creatinine / Q000652:urine; D008401:Gas Chromatography-Mass Spectrometry; D005988:Glyceric Acids / Q000097:blood* / Q000652:urine; D006801:Humans; D007223:Infant; D008297:Male; D013237:Stereoisomerism
D005988:Glyceric Acids; D003404:Creatinine