Abstract

Case Report

Severe Infantile Transaldolase deficiency: A case report

Khaled Alqoaer*, Ziad Asaad and Maisa Halabi

Published: 24 July, 2019 | Volume 2 - Issue 1 | Pages: 001-003

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 TALD deficiency.

Read Full Article HTML DOI: 10.29328/journal.japch.1001003 Cite this Article Read Full Article PDF

Keywords:

Transaldolase; Pentose pathway

References

  1. Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, et al. Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet. 2001; 68: 1086-1092. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/11283793
  2. Perl A. The pathogenesis of transaldolase deficiency. IUBMB Life. 2007; 59: 365-373. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/17613166
  3. Wamelink MM, Smith DE, Jansen EE, Verhoeven NM, Struys EA, et al. Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine. J Inherit Metab Dis. 2007; 30: 735-742. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/17603756
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Figures:

Figure 1

Figure 1

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