Severe Infantile Transaldolase Deficiency
Khaled Alqoaer
Department of Pediatrics, King Salman Armed Forces Hospital, Tabuk, Saudi Arabia.
Ziad Asaad
Department of Pediatrics, King Salman Armed Forces Hospital, Tabuk, Saudi Arabia.
Maisa Halabi *
Department of Pediatrics, King Salman Armed Forces Hospital, Tabuk, Saudi Arabia.
*Author to whom correspondence should be addressed.
Abstract
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.
Keywords: Transaldolase, pentose phosphate pathway