A new case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
D002675:Child, Preschool; D002855:Chromatography, Thin Layer; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007930:Leucine; D008297:Male; D007652:Oxo-Acid-Lyases / Q000172:deficiency* / Q000378:metabolism
D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase; D007930:Leucine