title: 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.
authors.affiliation: Department of Pediatrics MC 1510, King Abdulaziz Medical City, King Fahad National Guard Hospital, 22490, Riyadh, 11426, Saudi Arabia.
authors.forename: Nada
authors.initials: N
authors.lastname: Jassim
authors.forename: Mohammed
authors.initials: M
authors.lastname: Alghaihab
authors.forename: Suhail Al
authors.initials: SA
authors.lastname: Saleh
authors.forename: Majid
authors.initials: M
authors.lastname: Alfadhel
authors.forename: Mirjam M C
authors.initials: MM
authors.lastname: Wamelink
authors.forename: Wafaa
authors.initials: W
authors.lastname: Eyaid