📂 Diseases
familial apolipoprotein C-II deficiency — Definition
Ailesel apolipoprotein C-II eksikliği / familial apolipoprotein C-II deficiency
Apolipoprotein is a rare autosomal resessive disease where C-II is insufficient or functionless as a result of genetic mutations. This situation leads to the lack of apolipoprotein C-II, which is necessary for the activation of lipoprotein lipase enzyme. As a result, fragmentation of chilomicrons and very low density lipoproteins (VLDL) is impaired, severe rise in the levels of triglycerides in the blood (hypertriglycerides). Clinical findings include recurrent pancreatitis attacks, postponed ksantoms and hepatosplenomegaly.
Frequently Asked Questions
❓ What is Ailesel apolipoprotein C-II eksikliği?
Ailesel apolipoprotein C-II eksikliği; apolipoprotein is a rare autosomal resessive disease where C-II is insufficient or functionless as a result of genetic mutations. This situation leads to the lack of apolipoprotein C-II, which is necessary for the activation of lipoprotein lipase enzyme. As a result, fragmentation of chilomicrons and very low density lipoproteins (VLDL) is impaired, severe rise in the levels of triglycerides in the blood (hypertriglycerides). Clinical findings include recurrent pancreatitis attacks, postponed ksantoms and hepatosplenomegaly.
❓ What is familial apolipoprotein C-II deficiency in Turkish?
The Turkish equivalent of "familial apolipoprotein C-II deficiency" is Ailesel apolipoprotein C-II eksikliği.
❓ Which medical field is Ailesel apolipoprotein C-II eksikliği related to?
This term belongs to the Diseases category.