congenital generalized lipodystrophy

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Autosomal recessive disorders in which there is almost no adipose tissue, extreme insulin resistance, hypertriglyceridaemia, hepatic steatosis, and early onset of diabetes. Type 1 congenital generalized lipodystrophy is caused by mutation in the AGPAT2 gene that encodes lysophosphatidic acid acyltransferase (LPAAT, EC, type 2 by mutation in the gene encoding seipin, type 3 (Berardinelli–Seip congenital lipodystrophy) by mutation in the gene for caveolin-1.

Subjects: Medicine and Health.

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