Lipoprotein Lipase Deficiency in an Infant.
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Date
2011-10
Journal Title
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Volume Title
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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.
Description
Keywords
Hypertriglyceridemia, Lipoprotein lipase deficiency, Lipemia retinalis, Mutation analysis, Medium chain triglyceride oil
Citation
Nampoothiri Sheela, Radhakrishnan Natasha, Schwentek Andrea, Hoffmann Michael Marcus. Lipoprotein Lipase Deficiency in an Infant. Indian Pediatrics. 2011 October; 48(10): 805-806.