Congenital generalised lipodystrophy
Definition: A genetic disorder caused by mutations in the AGPAT2 and BSCL2 genes. It is characterized by lipoatrophy in the trunk, face, and extremities, hypertriglyceridemia, muscle hypertrophy, cardiomyopathy and hepatomegaly. Patients develop insulin resistance, leading to diabetes mellitus.
Synonyms (terms occurring on more labels are shown first): Lipodystrophy congenital
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