An Infant with Milky Serum and a Rare Mutation Academic Article uri icon

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abstract

  • A 40-day-infant having milky serum, eruptive xanthomas, hepatosplenomegaly, lipemia retinalis, high cholesterol and triglyceride, was found to have lipoprotein lipase (LPL) deficiency on genetic workup. Triglyceride decreased with dietary fat restriction, medium chain triglyceride and fibrates. LPL deficiency in early infancy can be treated with pharmacological and dietary interventions.

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publication date

  • January 2020