Transketolase deficiency

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Transketolase deficiency

Synonyms: Short stature-developmental delay-congenital heart defect syndrome | TKT deficiency

A rare disorder of pentose phosphate metabolism characterized by 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 behavior 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).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Transketolase deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.