Hypertriglyceridemia in a 5-day-old newborn--a case report.
Neonatal hypertriglyceridaemia is extremely rare in pediatrics. We narrowed down the possibilities to a case of lipoprotein lipase (LPL) deficiency through a designed process of elimination with this particular patient. The biochemical hallmark of the disease is the presence of hyperchylomicronemia in fasting plasma. The patient responded well to a special formula containing median chain triglyceride (MCT). This was one of the youngest cases of hyperlipidemia and hyperlipoproteinemia to be reported during the neonatal period. Therefore the approach is mainly through the process of elimination because of inadequate laboratory facilities.
Chou
Tzu-Shen
TS
Department of Pediatrics, Kaohsiung Medical University Hospital, No. 100, Shih-Chuan 1st Road, Kaohsiung 807, Taiwan.
Liu
Hsiao-Yen
HY
Hsiao
Pi-Jung
PJ
Tseng
Hsing-I
HI
Chen
Wu-Yuen
WY
Lu
Chu-Chong
CC
D005260:Female; D006801:Humans; D006953:Hyperlipoproteinemia Type IV / Q000235:genetics* / Q000628:therapy; D007231:Infant, Newborn; D008071:Lipoprotein Lipase / Q000172:deficiency / Q000235:genetics*; D009154:Mutation
D008071:Lipoprotein Lipase