📂 Diseases
congenital generalized lipodystrophy — Definition
Konjenital jeneralize lipodistrofi / congenital generalized lipodystrophy
Congenital generation lipodistrofi is a rare genetic disease characterized by almost completely absence of fat tissue in the body. This condition leads to pronounced reduction of subcutaneous fat tissue or absence of no skin, resulting in pronouncedization of muscle tissue. The disease is associated with metabolic complications such as insulin resistance, hypertriglyceemia, hepatomegaly and diabetes. Autozomal indicates resessive inheritance and is caused by mutations in AGPAT2 or BSCL2 genes.
Frequently Asked Questions
❓ What is Konjenital jeneralize lipodistrofi?
Konjenital jeneralize lipodistrofi; congenital generation lipodistrofi is a rare genetic disease characterized by almost completely absence of fat tissue in the body. This condition leads to pronounced reduction of subcutaneous fat tissue or absence of no skin, resulting in pronouncedization of muscle tissue. The disease is associated with metabolic complications such as insulin resistance, hypertriglyceemia, hepatomegaly and diabetes. Autozomal indicates resessive inheritance and is caused by mutations in AGPAT2 or BSCL2 genes.
❓ What is congenital generalized lipodystrophy in Turkish?
The Turkish equivalent of "congenital generalized lipodystrophy" is Konjenital jeneralize lipodistrofi.
❓ Which medical field is Konjenital jeneralize lipodistrofi related to?
This term belongs to the Diseases category.