Conditions / Genetic
triosephosphate isomerase deficiency
info · Genetic
A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an auto
A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
Signs and symptoms
- Respiratory failure
- Prolonged neonatal jaundice
- Respiratory distress
- Chronic hemolytic anemia
- Dystonia
- Myopathy
- Hypotonia
- Generalized hypotonia
- Failure to thrive
- Unsteady gait
Also known as: Triose phosphate-isomerase deficiency