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://www.orphadata.org. Data version April 2024
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Transketolase deficiency?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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