Apolipoprotein C-II deficiency

Baggio G, Manzato E, Gabellic, Fellin R, Martini S, Baldi E, Verlato F, Baiocchi MR, Sprecher DL, Kashyap ML, Brewer HB Jr, Crepaldi G (1986) Apolipoprotein C-II deficiency syndrome. J Clin Invest 77 520-527... 

Maguire GF, Little JA, Kakis G, Breckenridge WC (1984) Apolipoprotein C-II deficiency associated with nonfunctional mutant forms of apohpoprotein C-II. Can J Biochem 62 847-852... 

Apolipoprotein C-II deficiency Apolipoprotein C-II (apoC-II) Liver 19ql3 207750... 

Alkyldihydroxyacetonephosphate synthase deficiency 2-Aminoadipate aminotransferase deficiency 2-Aminoadipic semialdehyde synthetase deficiency -Aminolevulinic acid dehydratase deficiency 2-Amino-/2-oxoadipic aciduria Amylo-l,6-glucosidase deficiency Amylopectinosis Andersen disease Androgen Insensitivity syndrome Apolipoprotein A-I deficiency Apolipoprotein B-lOO deficiency Apolipoprotein C-II deficiency... 

Diagnosis of lipoprotein lipase deficiency is based on low or absent enzyme activity with normal human plasma or apolipoprotein C-II, a cofactor of the enzyme. 

Hatters DM, Minton AP, Hewlett GJ (2002) Macromolecular crowding accelerates amyloid formation by human apolipoprotein C-II. J Biol Chem 277 7824-7830 He Y, Zhou H, Tang H, Luo Y (2006) Deficiency of disulfide bonds facilitating fibrillogenesis of endostatin. J Biol Chem 281 1048-1057... 

Breckenridge WC, Little JA, Steiner G, Chow A, Poast M (1978) Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. N Engl J Med 298 1265-1273... 

A disorder of lipid metabolism, in which absence of lipoprotein lipase activity due to an absolute apoC-II deficiency results in marked hypertriglyceridemia (Type I phenotype), has been reviewed elsewhere (N8). There are some unexplained differences in the clinical picture and plasma lipoprotein pattern between apoC-II deficiency and primary lipoprotein lipase deficiency. In apoC-II deficiency, symptoms appear to be milder (but recurrent abdominal pain, caused apparently by acute pancreatitis, is a frequently reported symptom). Patients do not show xanthomas or hepatomegaly, and few have splenomegaly (all features of lipoprotein lipase deficiency). Diagnosis is by electrophoresis of the C apolipoproteins, and a plasma triglyceride concentration usually 1000-3000 mg/dl (N8). There may be an increase in plasma VLDL concentration, whereas in classical lipoprotein lipase deficiency plasma VLDL concentration is nearly normal (N8). 

Schaefer EJ, Ordovas EM, Law SW, GhiseUi GC, Kashyap MT, Srivastava LS, Heaton WH, Albers JJ, Connor WE, Lindgren FT, Lemeshev Y, Segrest JP, Brewer HB Jr (1985) Familial apolipoprotein A-I and C-III deficiency, variant II. J Lipid Res 26 1089-1101... 

Ghiselti, C., Schaefer, E. J., Gascon, F-, and Brewer, II. B. (1981). Type HI hyperlipoprote iitcmia associated with apolipoprotein E deficiency, St iciice 214, 1239-1241. 

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