Transaldolase deficiency

Definition

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

Epidemiology

Less than ten cases have been reported in the literature so far, all involving children born to consanguineous parents of Turkish and Arabic origin.

Cause

The disorder is caused by mutations in the transaldolase gene (TALDO1, 11p15.5-p15.4).

Signs and symptoms

Dysmorphic features (downward-slanting palpebral fissures, low-set ears, and cutis laxa) have also been described. The severity of the symptoms and outcome vary widely.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormal circulating glutamine concentration
• Anemia(Low number of red blood cells or hemoglobin)
• Cirrhosis(Scar tissue replaces healthy tissue in the liver)
• Hepatosplenomegaly(Enlarged liver and spleen)
• Increased serum bile acid concentration
• Thrombocytopenia(Low platelet count)

30%-79% of people have these symptoms

• Abnormal facial shape(Unusual facial appearance)
• Abnormality of the clitoris(Abnormality of the clit)
• Abnormality of the kidney(Abnormal kidney)
• Hydrops fetalis
• Premature skin wrinkling
• Telangiectasia

5%-29% of people have these symptoms

• Atrial septal defect(An opening in the wall separating the top two chambers of the heart)
• Biventricular hypertrophy
• Coarctation of aorta(Narrowing of aorta)
• Functional respiratory abnormality
• Global developmental delay

NIH genetic and rare disease info

• NIH info on Transaldolase deficiency

Transaldolase deficiency is a rare disease.

Transaldolase deficiency Resources
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