3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.
Five new patients are reported and the pathogenesis of the hypoglycaemia without ketogenesis is discussed. This report extends a recent review.
D000138:Acidosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007003:Hypoglycemia / Q000235:genetics*; D007223:Infant; D007657:Ketone Bodies / Q000096:biosynthesis; D007652:Oxo-Acid-Lyases / Q000172:deficiency*
D007657:Ketone Bodies; D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase