Conditions / Genetic
enterokinase deficiency
info · Genetic
An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1.
Signs and symptoms
- Diarrhea
- Failure to thrive
- Hypoproteinemic edema
- Hypoproteinemia
Also known as: congenital enterokinase deficiency; congenital enteropathy due to enteropeptidase deficiency; deficiency of enteropeptidase