Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency.
A 3-year-old boy had recurrent episodes of lethargy, encephalopathy, and hepatomegaly accompanied by hypoglycemia, elevated liver aminotransferase and creatine kinase values, and nonketotic dicarboxylic aciduria; the serum carnitine level was moderately reduced. Carnitine palmitoyltransferase II activity was decreased in lymphocytes and fibroblasts. Therapy with L-carnitine and a diet low in long-chain triglycerides did not prevent recurrent episodes.
Elpeleg
O N
ON
Department of Pediatrics, Shaare-Zedek Medical Center, Jerusalem, Israel.
Joseph
A
A
Branski
D
D
Christensen
E
E
Holme
E
E
Demaugre
F
F
Saudubray
J M
JM
Gutman
A
A
D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000378:metabolism; D002675:Child, Preschool; D003402:Creatine Kinase / Q000378:metabolism; D002149:Energy Intake; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000201:enzymology; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D012008:Recurrence; D000637:Transaminases / Q000378:metabolism
D005227:Fatty Acids; D002334:Carnitine O-Palmitoyltransferase; D000637:Transaminases; D003402:Creatine Kinase