Transaldolase TALDO defi ciency is a rare autosomal recessive disorder of the pentose phosphate pathway. It has variable presentations with poor outcome when present early in life. We present a young Saudi infant with a fatal early presentation of TALD defi ciency.
Transaldolase TALDO deficiency is a rare autosomal recessive disorder of the pentose phosphate pathway. It has variable presentations with poor outcome when present early in life. We present a young Saudi infant with a fatal early presentation of TALDO deficiency.
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