triosephosphate isomerase deficiency (TPI deficiency)

Genetics

• autosomal recessive disorder
• associated with defects in TPI1 gene

Clinical manifestations

• most severe clinical disorder of glycolysis
• neonatal jaundice,
• chronic hemolytic anemia
• progressive neuromuscular dysfunction
• cardiomyopathy
• increased susceptibility to infection

More general terms

• carbohydrate inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/190450