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GTR Home > Conditions/Phenotypes > Transketolase deficiency

Transketolase deficiency

Synonyms
Short stature, developmental delay, and congenital heart defects

Summary

A rare disorder of pentose phosphate metabolism with characteristics of developmental delay and intellectual disability, delayed or absent speech, short stature and congenital heart defects (such as ventricular septal defect, atrial septal defect and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behaviour, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment and variable facial dysmorphism among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate). [from SNOMEDCT_US]

Available tests

5 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (5 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HEL-S-48, HEL107, SDDHD, TK, TKT1, TKT
    Summary: transketolase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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