Conditions / Genetic
familial lipase maturation factor 1 deficiency
info · Genetic
A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3.
Signs and symptoms
- Tuberous xanthoma
- Hypertriglyceridemia
- Lipodystrophy
- Type II diabetes mellitus
- Pancreatitis
Also known as: LPL and HL deficiency; LPL and HTGL deficiency; combined lipase deficiency; familial LMF1 deficiency; lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency