Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.
Two sisters developed severe hypoglycemia at 8 months of age, resulting in death in one of them. Metabolic studies of the second revealed decline of blood glucose concentration and low plasma ketone body values during a 20-hour fast, both reversed by administration of medium-chain triglycerides. Carnitine palmitoyl transferase activity was absent in the liver extract of the patient; lack of this enzyme impairs long-chain fatty acid oxidation and ketogenesis. Failure of gluconeogenesis could result from decreased production of acetyl-CoA and NADH.
D000217:Acyltransferases / Q000172:deficiency*; D001786:Blood Glucose / Q000378:metabolism; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D005215:Fasting; D005227:Fatty Acids / Q000097:blood; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000188:drug therapy / Q000209:etiology* / Q000378:metabolism; D007223:Infant; D007328:Insulin / Q000097:blood; D007659:Ketones / Q000097:blood; D008099:Liver / Q000201:enzymology; D014280:Triglycerides / Q000627:therapeutic use
D001786:Blood Glucose; D005227:Fatty Acids; D007328:Insulin; D007659:Ketones; D014280:Triglycerides; D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase