Triosephosphate Isomerase Deficiency: The First Case Report from I.R. Iran

Abstract

Introduction: Triosephosphate isomerase (TPI) deficiency is an autosomal recessive disease and the most severe form of glycolytic enzymopathies, characterized by hemolytic anemia, neurological disorders, infections, and muscle weakness that can affect breathing and heart function. Signs and symptoms include anemia, pallor, jaundice, fatigue, shortness of breath, muscle weakness, atrophy, movement problems, dystonia, tremors, seizures, cardiomyopathy, and diaphragm weakness. Case Presentation: A three-day female newborn was admitted because of hemolytic anemia. All usual assessments for hemolysis, G6PD, osmotic fragility, RBC morphology and cell panel, minor blood groups, antibody screening, and echocardiography were normal. Neurological manifestations appeared after six months of age, including some seizure-like movements, dystonia, and opisthotonus. Whole exome sequencing confirmed the diagnosis of TPI deficiency with the variant NM-000365.5:c.315G>C chr12-6978338(hg19) which revealed the mutation of p.Glu105Asp. By the age of two years, in addition to some drugs for neurologic manifestations and folic acid, the patient was hospitalized every 30 - 45 days for blood transfusion or because of pneumonia. The episodes of pneumonia increased after 24 months of age, and finally, the child expired at the age of 34 months due to pneumonia and respiratory failure. Conclusions: Triosephosphate isomerase deficiency should be considered in all neonates with hemolytic anemia without usual causes.