TY - JOUR
T1 - Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency
AU - Bougnères, Pierre F.
AU - Saudubray, Jean M.
AU - Marsac, Cécile
AU - Bernard, Olivier
AU - Odièvre, Michel
AU - Girard, Jean
PY - 1981/1/1
Y1 - 1981/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0019499706&partnerID=8YFLogxK
U2 - 10.1016/S0022-3476(81)80834-7
DO - 10.1016/S0022-3476(81)80834-7
M3 - Article
AN - SCOPUS:0019499706
SN - 0022-3476
VL - 98
SP - 742
EP - 746
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 5
ER -