transketolase deficiency

Findings

No curated finding names transketolase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Congenital onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• cardiogenetic disease
• developmental anomaly of metabolic origin
• inborn disorder of pentose phosphate metabolism
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Resolves to: transketolase deficiency

Also called

short stature-developmental delay-congenital heart defect syndromeTKT deficiency