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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]