Severe Infantile Transaldolase Deficiency

Khaled Alqoaer; Ziad Asaad; Maisa Halabi

doi:10.9734/ajpr/2019/v2i430112

Research Article Open access CC BY 4.0

Severe Infantile Transaldolase Deficiency

Khaled Alqoaer, Ziad Asaad, Maisa Halabi

Asian Journal of Pediatric Research · pp. 1–5 · Published 9 Aug 2019

10.9734/ajpr/2019/v2i430112

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.

Transaldolase pentose phosphate pathway

Cited by 3

Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report

Jiaxin Xue, Jin Han, Xiaopeng Zhao · Frontiers in Genetics · 2022

Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway

Naz Guleray Lafcı, Fatma Kurt Colak, Gulseren Sahin · Hormones · 2020

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Khaled Alqoaer, Ziad Asaad, Maisa Halabi (2019). Severe Infantile Transaldolase Deficiency. Asian Journal of Pediatric Research , 1–5. https://doi.org/10.9734/ajpr/2019/v2i430112

Affiliations

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.

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