Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
Chylomicronemia Caused by Lipoprotein Lipase Gene Mutation Related to a Hyper-response of Insulin Secretion to Glucose
Shu TANAKAYoshihiro TANABEHideki TAMURAShinya ISHIIYuji SHUTOJun KAMEGAIHitoshi SUGIHARAMasafumi KOBAYASHIIchiji WAKABAYASHITakeyoshi MURANOKoji SHIRAIShinichi OIKAWA
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2002 Volume 41 Issue 4 Pages 300-303

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Abstract

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 (μU/ml) levels were normal. Plasma glucose pattern during oral glucose (75 g) tolerance test was normal, however 30 minutes after glucose-loading the insulin secretion unexpectedly increased to 89.4 μU/ml. These data suggested that chylomicronemia might be related to a hyper-response of insulin secretion to glucose without obesity.
(Internal Medicine 41: 300-303, 2002)

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