Chylomicronemia caused by lipoprotein lipase gene mutation related to a hyper-response of insulin secretion to glucose.
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 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 microU/ml. These data suggested that chylomicronemia might be related to a hyper-response of insulin secretion to glucose without obesity.
Tanaka
Shu
S
Third Department of Internal Medicine, Nippon Medical School, Tokyo.
Tanabe
Yoshihiro
Y
Tamura
Hideki
H
Ishii
Shinya
S
Shuto
Yuji
Y
Kamegai
Jun
J
Sugihara
Hitoshi
H
Kobayashi
Masafumi
M
Wakabayashi
Ichiji
I
Murano
Takeyoshi
T
Shirai
Koji
K
Oikawa
Shinichi
S
D000328:Adult; D001786:Blood Glucose / Q000378:metabolism*; D002914:Chylomicrons / Q000235:genetics / Q000378:metabolism*; D006720:Homozygote; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000150:complications*; D015228:Hypertriglyceridemia / Q000209:etiology*; D007328:Insulin / Q000378:metabolism*; D000078790:Insulin Secretion; D008071:Lipoprotein Lipase / Q000235:genetics*; D008297:Male; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA
D001786:Blood Glucose; D002914:Chylomicrons; D007328:Insulin; D008071:Lipoprotein Lipase