Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Transient infantile hypertriglyceridemia is an autosomal recessive disorder caused by mutations of the GPD1 gene. Apart from hypertriglyceridemia liver involvement is a common feature including hepatomegaly and elevated liver enzymes.
Hypertriglyceridemia
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APOA5
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APOE
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Combined lipase deficiency
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GPIHBP1
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LIPC
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LIPE
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LPL
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Plasma triglyceride level quantitative trait locus
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Transient infantile hypertriglyceridemia
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GPD1
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OMIM.ORG article Omim 614480
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