Abstract
Transaldolase (TALDO) deficiency is a rare inborn error of the pentose phosphate pathway. We report the clinical presentation and laboratory findings of a new patient with TALDO deficiency. The two-year-old Arabic boy presented with neonatal onset of anemia and thrombocytopenia, tubulopathy, and rickets and was subsequently found to have cirrhosis and deafness. A comparison with other TALDO deficient patients is given.
Publication types
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Case Reports
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Comparative Study
MeSH terms
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Adolescent
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Child, Preschool
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Deafness / etiology
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Humans
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Liver Cirrhosis / etiology*
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Liver Cirrhosis / pathology
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Male
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Metabolism, Inborn Errors / complications
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Metabolism, Inborn Errors / enzymology*
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Metabolism, Inborn Errors / genetics*
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Mutation, Missense
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Pentose Phosphate Pathway*
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Rickets / etiology
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Transaldolase / deficiency*
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Transaldolase / genetics*
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Transaldolase / metabolism
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Urine / chemistry