Transaldolase deficiency

Transaldolase deficiency

Infobox Disease

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OMIM = 606003
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Transaldolase deficiency is a disease characterised by abnormally low levels of the Transaldolase enzyme. It is a metabolic enzyme involved in the pentose phosphate pathway. It is caused by mutation in the transaldolase gene (TALDO1). It was first described by Verhoeven et al in 2001. [cite journal |author=Verhoeven NM, Huck JH, Roos B, "et al" |title=Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway |journal=Am. J. Hum. Genet. |volume=68 |issue=5 |pages=1086–92 |year=2001 |month=May |pmid=11283793 |pmc=1226089 |doi=10.1086/320108 |url=]


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