9 rows · 2/1/2021 · Apolipoprotein C-II deficiency . Title. Other Names: Hyperlipoproteinemia, type Ib APOC2 deficiency . This disease is grouped under: Familial chylomicronemia syndrome. Symptoms Symptoms Listen. This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person.
Familial apolipoprotein C-II deficiency is a very rare autosomal recessive disorder in which apo C-II is absent, the clearance of chylomicrons from the blood is greatly impaired , and triglycerides accumulate in plasma. VLDL may also be elevated.
(1)Department of Diabetes and Metabolic Diseases, Graduate School of Medicine, The University of Tokyo, Japan. AIM: Familial apolipoprotein C-II (apoC-II) deficiency is a rare autosomal recessive disorder with marked hypertriglyceridemia resulting from impaired activation of lipoprotein lipase.
Lipoprotein and apolipoprotein concentrations were determined in 11 homozygous and 9 heterozygous subjects for familial apolipoprotein C-II (Apo C-II) deficiency. Apo C-II was not detectable in the homozygotes, with the exception of 1 subject who possessed immunochemically detectable quantities in one of two samples. Apolipoproteins C-III (Apo C-III) and E (Apo E) were elevated 2-3.
deficiency [de-fish´en-se] a lack or shortage a condition characterized by the presence of less than the normal or necessary supply or competence. color vision deficiency see color vision deficiency . deficiency disease a condition due to dietary or metabolic deficiency , including all diseases caused by an insufficient supply of essential nutrients …
Apolipoprotein E, Apolipoprotein B, Apolipoprotein A1
