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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
General
carbohydrate inborn error of metabolism
Database Correlations
OMIM 190450
MORBIDMAP 190450
References
OMIM :accession 190450