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Pulmonary manifestations in a patient with transaldolase deficiency.

ABSTRACT: Transaldolase deficiency is a newly recognized metabolic disorder. It is an autosomal recessive genetic disease (OMIM #606003). The effects of the defect in the TALDO gene are pleiotropic with a clinical presentation of growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, pancytopenia, and bleeding tendencies. This is the first report of a child who was diagnosed at birth with transaldolase deficiency who subsequently developed hepatopulmonary syndrome.

SUBMITTER: Jassim N

PROVIDER: S-EPMC3897798 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Pulmonary manifestations in a patient with transaldolase deficiency.

Jassim Nada N Alghaihab Mohammed M Saleh Suhail Al SA Alfadhel Majid M Wamelink Mirjam M C MM Eyaid Wafaa W

JIMD reports 20130712

Transaldolase deficiency is a newly recognized metabolic disorder. It is an autosomal recessive genetic disease (OMIM #606003). The effects of the defect in the TALDO gene are pleiotropic with a clinical presentation of growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, pancytopenia, and bleeding tendencies. This is the first report of a child who was diagnosed at birth with transaldolase deficiency who subsequently developed hepatopulmonary syndro ...[more]

PMID: 23846909

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Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.

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RNA-Sequencing of Transaldolase and Aldose Reducatase Deficiency in Mouse Liver

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2023-01-13 | GSE217133 | GEO

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Cutaneous manifestations of DOCK8 deficiency syndrome.

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| S-EPMC4103903 | biostudies-literature

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