Ontology highlight
ABSTRACT:
SUBMITTER: Shah MH
PROVIDER: S-EPMC6198689 | biostudies-literature | 2018 Oct-Dec
REPOSITORIES: biostudies-literature
Shah M H MH Roshan R R Desai R R Kadam S S SS
Journal of postgraduate medicine 20181001 4
Lipoprotein lipase (LPL) deficiency is an autosomal recessive metabolic disorder with varying presentation in infancy and childhood, whereas clinical manifestations are rare in neonatal period. The estimated prevalence is one in a million births. A 23-day-old baby was admitted with complaints of fever, vomiting, and lethargy. Blood sample drawn appeared lipemic. Lipemia retinalis was noted on funduscopic examination. Biochemical analysis revealed abnormal lipid profile with severe hypertriglycer ...[more]