title: Lipoprotein lipase deficiency in an infant.
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.
authors.affiliation: Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India. sheeladr@gmail.com
authors.forename: Sheela
authors.initials: S
authors.lastname: Nampoothiri
authors.forename: Natasha
authors.initials: N
authors.lastname: Radhakrishnan
authors.forename: Andrea
authors.initials: A
authors.lastname: Schwentek
authors.forename: Michael Marcus
authors.initials: MM
authors.lastname: Hoffmann
mesh_terms: D004252:DNA Mutational Analysis; D018752:Diet, Fat-Restricted; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D007223:Infant; D008071:Lipoprotein Lipase / Q000172:deficiency* / Q000235:genetics; D008297:Male
chemical_list: D008071:Lipoprotein Lipase