3-Hydroxy-3-methylglutaric aciduria.
3-Hydroxy-3-methylglutaric aciduria was found in a newborn infant whose parents are first cousins. The patient presented at 5 days of life with hyperammonemia, hypoglycemia, and metabolic acidosis. There was no ketonuria. Diagnosis was made by analysis of the pattern of organic acids excreted in the urine. A profound deficiency in activity of 3-hydroxy-3-methylglutaryl-coenzyme A lyase was found in cultured skin fibroblasts. The parents had intermediate levels of enzyme activity.
D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005500:Follow-Up Studies; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007231:Infant, Newborn; D007930:Leucine / Q000378:metabolism; D015093:Meglutol / Q000652:urine*; D007652:Oxo-Acid-Lyases / Q000172:deficiency*; D012867:Skin / Q000166:cytology; D014631:Valerates / Q000652:urine
D005977:Glutarates; D014631:Valerates; C004961:beta-hydroxyisovaleric acid; D015093:Meglutol; D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase; D007930:Leucine