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Article

Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.

BMC pediatrics - 20 Sept 2021

Wu Yun Qin, Hu Yue Yuan, Li Gui Nan

Abstract excerpt

BACKGROUND: Lipoprotein lipase (LPL) deficiency is a monogenic lipid metabolism disorder biochemically characterized by hypertriglyceridemia (HTG) inherited in an autosomal recessive manner. Neonatal onset LPL deficiency is rare. The purpose of this study was to clarify the clinical features of neonatal LPL deficiency and to analyze the genetic characteristics of LPL gene. METHODS: In order to reach a definite...

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Identifiers

PMID: 34544385
DOI: 10.1186/s12887-021-02875-x
PMCID: PMC8451144

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