Abstract
BackgroundLipoprotein 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.MethodsIn order to reach a definite molecular diagnose, metabolic diseases-related genes were sequenced through gene capture and next generation sequencing. Meanwhile, the clinical characteristics and follow-up results of the two newborns were collected and analyzed.ResultsThree different mutations in the LPL gene were identified in the two newborns including a novel compound heterozygous mutation (c.347G > C and c.472 T > G) and a reported homozygous mutation (c.836 T > G) was identified. Interestingly, both the two neonatal onset LPL deficiency patients presented with suffered recurrent infection in the hyperlipidemia stage, which was not usually found in childhood or adulthood onset LPL deficiency patients.ConclusionThe two novel mutaitons, c.347G > C and c.472 T > G, identified in this study were novel, which expanded the LPL gene mutation spectrum. In addition, suffered recurrent infection in the hyperlipidemia stage implied a certain correlation between immune deficiency and lipid metabolism abnormality. This observation further supplemented and expanded the clinical manifestations of LPL deficiency.
Highlights
Lipoprotein lipase (LPL) deficiency is a monogenic lipid metabolism disorder biochemically characterized by hypertriglyceridemia (HTG) inherited in an autosomal recessive manner
Lipoprotein lipase (LPL) deficiency is a lipoprotein metabolism disorder inherited in an autosomal recessive manner caused by dysfunction of the LPL gene
The LPL gene is located in the 8p22 band and contains 10 exons and 9 introns spanning about 30 kb [5]
Summary
Lipoprotein lipase (LPL) deficiency is a monogenic lipid metabolism disorder biochemically characterized by hypertriglyceridemia (HTG) inherited in an autosomal recessive manner. The purpose of this study was to clarify the clinical features of neonatal LPL deficiency and to analyze the genetic characteristics of LPL gene. Lipoprotein lipase (LPL) deficiency is a lipoprotein metabolism disorder inherited in an autosomal recessive manner caused by dysfunction of the LPL gene. This rare disease is often diagnosed in childhood and has an incidence of about 1:1,000,000 [1]. Patients with LPL usually have elevated plasma triglycerides (TG), abdominal pain, recurrent acute pancreatitis, exanthematous xanthoma, and hepatosplenomegaly [2].
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