congenital generalized lipodystrophy type 4

Genetics

• associated with defects in PTRF

Clinical manifestations

• association of congenital generalized lipodystrophy with muscular dystrophy & cardiac anomalies
• near-absence of adipose tissue from birth or early infancy
• severe insulin resistance with early-onset diabetes
• hepatic steatosis

Laboratory

• serum triglycerides: hypertriglyceridemia

More general terms

• congenital lipodystrophy

Database

• OMIM: https://mirror.omim.org/entry/613327