Thiamine pyrophosphokinase deficiency is a rare genetic disorder caused by mutations in the TPPK gene. This gene provides instructions for making an enzyme called thiamine pyrophosphokinase, which is involved in the metabolism of thiamine (vitamin B1). Mutations in the TPPK gene lead to a deficiency of this enzyme, which can cause a variety of neurological symptoms, including childhood encephalopathy.
The most common cause of childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a lack of thiamine in the diet. Thiamine is an essential nutrient found in many foods, including meat, fish, eggs, and certain grains. If a person does not consume enough thiamine, their body cannot make enough of the enzyme thiamine pyrophosphokinase, leading to a