Pulmonary manifestations in a patient with transaldolase deficiency.

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.

Citation

Nada Jassim, Mohammed Alghaihab, Suhail Al Saleh, Majid Alfadhel, Mirjam M C Wamelink, Wafaa Eyaid. Pulmonary manifestations in a patient with transaldolase deficiency. JIMD reports. 2014;12:47-50

PMID: 23846909

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