Yale Transketolase Deficiency Program

The mission of the Yale Transketolase Deficiency Program is to deliver state-of-the-art comprehensive medical care to patients with Transketolase (TKT) deficiency; collaborate with a wide network of health care and community partners to identify TKT-deficient patients in the U.S. and beyond; perform multidisciplinary cutting-edge research to understand disease pathogenesis; and develop new therapies to improve the lives of TKT patients.

TKT deficiency is a recessive hereditary metabolic disorder in the pentose phosphate pathway. Recent research has shown that TKT deficiency is closely associated with inflammation and dysregulation of T-cells. This genetic condition can cause proportionate short stature, neurodevelopmental delays, heart defects, early cataracts, uveitis and joint inflammation, among other health complications.

To date, there is no cure for this under-recognized disorder. The mechanisms by which cellular changes lead to clinical symptoms of TKT deficiency and the potential for targeted treatment options have yet to be discovered.

The Yale Transketolase Deficiency Program advances the understanding of disease pathogenesis toward the development of novel therapeutic strategies.

Using advanced molecular technologies such as single-cell sequencing of affected cell types from the patients along with deep phenotypic characterization, the Yale Transketolase Deficiency Program is poised to make impactful breakthroughs in understanding of TKT deficiency and identifying and implementing individualized therapies to improve each patient’s health and quality of life.

By leveraging new knowledge about this unexplored, rare genetic disorder, the Yale Transketolase Deficiency Program seeks to understand the crosstalk between inflammation and metabolism as part of a larger research initiative across Yale.

The Yale Transketolase Deficiency Program collaborates with major networks of the Undiagnosed Diseases Network (UDN) as well as the National Organization for Rare Disorders (NORD), in addition to the Yale Diagnostic Center of Excellence (YDCoE) and the Yale NORD Center of Excellence for Rare Disorders. Moreover, the Yale Transketolase Deficiency Program connects with other prominent clinics and organizations involved in the care and support of patients with rare disorders.

The Yale TKT Research Program is supported in large part by the Schleifer Family Foundation.

In addition to the research program, our physicians are also available to evaluate and provide state-of-the-art, multidisciplinary clinical care for patients with known or suspected TKT deficiency.