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congenital generalized lipodystrophy type 1; Berardinelli-Seip congenital lipodystrophy type 1
Epidemiology: rare
Genetics:
- autosomal recessive
- associated with defects in AGPAT2
Clinical manifestations:
- near-absence of adipose tissue from birth or early infancy
- severe insulin resistance
- hepatic steatosis
- early onset of diabetes
Laboratory:
- serum triglycerides: hypertriglyceridemia
- blood glucose: hyperglycemia
General
congenital lipodystrophy
Database Correlations
OMIM 608594
References
OMIM :accession 608594