Key result
An infant with one novel and one reported mutation within exon 6 of the LPL gene presented with chylomicronemia, hepatomegaly, and lipemia retinalis.
Population
1 infant with Lipoprotein Lipase deficiency presenting with chylomicronemia, hepatomegaly, and lipemia…
Design
Case_report
Authors
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Adds novel LPL exon 6 variant to chylomicronemia literature; leaves open pathogenicity and diagnostic utility pending validation.
Case Report (n=1)
Identifies a novel mutation in the LPL gene in an infant presenting with severe hypertriglyceridemia and associated clinical features.
Vidanapathirana et al. (2017) conducted a case report in Lipoprotein Lipase Deficiency (n=1). LPL gene mutations was evaluated. An infant with one novel and one reported mutation within exon 6 of the LPL gene presented with chylomicronemia, hepatomegaly, and lipemia retinalis.
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