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

More general terms

• congenital lipodystrophy

Database

• OMIM: https://mirror.omim.org/entry/608594