Studies on a child suspected of having a dficiency in 3-hydroxy-3-methylglutaryl-Co A lyase.
The urine of a child who presented with hyperammonemia was found to contain elevated levels of 3-hydroxy-3-methylglutaric acid, 3-methylglutaconic acid and 3-methylglutaric acid. An increased excretion of these organic acids has been reported previously in a child with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Enzyme studies using cultured fibroblasts from this patient, however, indicated that the 3-hydroxy-3-methylglutaryl-CoA lyase activity was not markedly reduced.
D000214:Acyl Coenzyme A; D000641:Ammonia / Q000378:metabolism; D002849:Chromatography, Gas; D005260:Female; D005977:Glutarates / Q000652:urine; D006801:Humans; D006867:Hydrolases / Q000378:metabolism; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis* / Q000652:urine; D013058:Mass Spectrometry; D007652:Oxo-Acid-Lyases / Q000172:deficiency*; D012867:Skin / Q000201:enzymology
D000214:Acyl Coenzyme A; D005977:Glutarates; C022034:3-methylglutaconic acid; D000641:Ammonia; D006867:Hydrolases; D007652:Oxo-Acid-Lyases