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Lipoprotein lipase deficiency (LPLD) is a rare disease characterized by the accumulation of chylomicronemia with early-onset. Common symptoms are abdominal pain, hepatosplenomegaly, eruptive xanthomas and lipemia retinalis. Serious complications include acute pancreatitis. Gene  LPL  is one of causative factors of LPLD. Here, we report our experience on an asymptomatic 3.5-month-old Chinese girl with only milky blood. Whole-exome sequencing was performed and identified a pair of compound-heterozygous mutations in  LPL  gene, c.862G&amp;gt;A (p.A288T) and c.461A&amp;gt;G (p.H154R). Both variants are predicted “deleterious” and classified as “likely pathogenic”. This study expanded the  LPL  mutation spectrum of disease LPLD, thereby offering exhaustive and valuable experience on early diagnosis and proper medication of LPLD.

Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency