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transketolase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

transketolase deficiency

MONDO:0014881

Also known as:TKT deficiencyshort stature-developmental delay-congenital heart defect syndromeSDDHD

Overview

GeneticsAutosomal recessive · TKT (chr 3)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Global developmental delay, Proportionate short stature, Abnormal heart morphology, and Elevated circulating ribitol concentration; and common findings: Delayed speech and language development, Absent speech, Low muscle tone (hypotonia), and Ventricular septal defect and others. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Delayed speech and language development, Absent speech, Global developmental delay

Genetic Landscape

TKT function has not been fully characterized.

Transketolase deficiency is associated with mutations in the TKT gene on chromosome 3.

Diagnosis

Genetic testing for TKT is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 very common features, 13 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for transketolase deficiency.

32 publications have been identified in PubMed for transketolase deficiency. Research spans Case Report / Case Series (44%), Other (15%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Patient case studies	12	44%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617044

Orphanet

European rare disease database

Orphanet:488618

GARD

Genetic and Rare Diseases Info Center

GARD:17894

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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transketolase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

transketolase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications