Publication Type:

Journal Article

Source:

Indian Pediatrics, Volume 48, Number 10, p.805-806 (2011)

URL:

http://www.scopus.com/inward/record.url?eid=2-s2.0-80755147289&partnerID=40&md5=1bc696276efea6dd9ad79da520e3ef82

Keywords:

alpha tocopherol, amino acid substitution, apoC II gene, article, case report, cholesterol, cholesterol blood level, diet, disease severity, DNA Mutational Analysis, exon, Fat-Restricted, follow up, gene, gene mutation, gene sequence, hepatomegaly, heterozygosity, human, Humans, hyperlipidemia, hyperlipoproteinemia type 1, Hyperlipoproteinemia Type I, hypertriglyceridemia, infant, Lipoprotein Lipase, lipoprotein lipase gene, low fat diet, male, medium chain triacylglycerol, multivitamin, promoter region, triacylglycerol, very low density lipoprotein

Abstract:

Patients with isolated hypertriglyceridemia usually present with recurrent abdominal pain, pancreatitis, eruptive xanthomas, lipemia retinalis and hepatosplenomegaly. We describe the diagnosis and treatment of an infant with severe hypertriglyceridemia. The child was found to be heterozygous for two novel mutations in the lipoprotein lipase gene.

Notes:

cited By (since 1996)0

Cite this Research Publication

Sa Nampoothiri, Radhakrishnan, Nb, Schwentek, Ac, and Hoffmann, M. Ma, “Lipoprotein lipase deficiency in an infant”, Indian Pediatrics, vol. 48, pp. 805-806, 2011.