TY - JOUR
T1 - Apolipoprotein C-II deficiency
AU - Inadera, H.
N1 - Funding Information:
We are indebtedt o Ingrid Geldmacher,E velyn Glatting, Doris Schraubea nd MargretM iltner for their asisstancein theses tudies.T his project was supported by a grant from the Deutsche For-schungsgemeinschaft( Sonderforschungsbereich 90).
PY - 1994/12
Y1 - 1994/12
N2 - Apo C-II has a central role in triglyceride metabolism as a cofactor for lipoprotein lipase (LPL), the enzyme that catalyzes the hydrolysis of triglycerides on plasma lipoproteins. Apo C-II deficiency is a rare genetic disorder that is inherited as an autosomal recessive trait. Patients with this syndrome have marked alterations of triglyceride metabolism which include elevated fasting triglycerides, chylomicrons, and VLDL. Clinical features also include lipemia retinalis, eruptive xanthomas, and an increased incidence of pancreatitis. The initial description of the first patient with apo C-II deficiency by Breckenridge et al. established the important role of apo C-II as a cofactor for LPL. Since then, many kindreds with apo C-II deficiency have been described and the underlying molecular defect characterized.
AB - Apo C-II has a central role in triglyceride metabolism as a cofactor for lipoprotein lipase (LPL), the enzyme that catalyzes the hydrolysis of triglycerides on plasma lipoproteins. Apo C-II deficiency is a rare genetic disorder that is inherited as an autosomal recessive trait. Patients with this syndrome have marked alterations of triglyceride metabolism which include elevated fasting triglycerides, chylomicrons, and VLDL. Clinical features also include lipemia retinalis, eruptive xanthomas, and an increased incidence of pancreatitis. The initial description of the first patient with apo C-II deficiency by Breckenridge et al. established the important role of apo C-II as a cofactor for LPL. Since then, many kindreds with apo C-II deficiency have been described and the underlying molecular defect characterized.
UR - http://www.scopus.com/inward/record.url?scp=0028694420&partnerID=8YFLogxK
M3 - 総説
C2 - 7853717
AN - SCOPUS:0028694420
SN - 0047-1852
VL - 52
SP - 3241
EP - 3245
JO - Nihon rinsho. Japanese journal of clinical medicine
JF - Nihon rinsho. Japanese journal of clinical medicine
IS - 12
ER -