Transketolase deficiency is an inborn error of metabolism associated with short stature, developmental delay, and sometimes congenital heart defects. The condition is genetic. Transketolase is an enzyme in the pentose phosphate pathway, and it is important in metabolizing sugars. We are still learning how transketolase deficiency causes the symptoms we see, so we invite families with transketolase deficiency to contact us to help us better understand this rare syndrome. We need to better understand how transketolase deficiency causes short stature and changes in development so we can develop new treatments.

Transketolase deficiency is a genetic condition that occurs when a change or mutation in DNA is inherited from both parents in an autosomal recessive manner, which means that both copies of the transketolase gene in each cell have the mutation. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. We know that if both parents carry a mutation in this gene, there is a 25% chance of having a child with transketolase deficiency every time they have a child. This condition is more common in families of Ashkenazi Jewish ancestry.

For more information, please look at our publication describing a number of families with this condition.