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Article

Chylomicronemia caused by lipoprotein lipase gene mutation related to a hyper-response of insulin secretion to glucose.

Internal medicine (Tokyo, Japan) - 1 Apr 2002

Tanaka Shu, Tanabe Yoshihiro, Tamura Hideki, Ishii Shinya, Shuto Yuji, Kamegai Jun, Sugihara Hitoshi, Kobayashi Masafumi, Wakabayashi Ichiji, Murano Takeyoshi, Shirai Koji, Oikawa Shinichi

Abstract excerpt

A 39-year-old man with lipoprotein lipase (LPL) deficiency (height 177.7 cm, body weight 67 kg, and body mass index 21.2 kg/m2) showed severe hypertriglyceridemia (2,032 mg/dl). LPL activity and concentration were markedly low in postheparin plasma. LPL gene analysis revealed a homozygous mutation, Asp204 --> Glu in exon 5. Fasting plasma glucose (81 mg/dl) and insulin (2.7 microU/ml) levels were normal. Plasma...

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Identifiers

PMID: 11993791
DOI: 10.2169/internalmedicine.41.300

Genes

LPL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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