GPT2 deficiency is a genetic condition associated with seizures, microcephaly (small head size), hypotonia (muscle weakness) and developmental delays. We do not yet fully understand why mutations in GPT2 cause neurological and muscle problems, but we know that it has something to do with metabolite levels. GPT2 helps control levels of certain metabolites in the brain and in the muscle, and defects in GPT2 make it difficult for the brain and the muscle cells to do their job. We invite families with GPT2 deficiency to help us figure out how GPT2 works by contacting us. We need to better understand why and how GPT2 deficiency causes problems with brain and muscle functioning so we can develop new treatments.
GPT2 deficiency 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 GPT2 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. If both parents carry a GPT2 mutation, this means there is a 25% chance of having a child with GPT2 deficiency every time they have a child.
For more information, please look at our publication on a family with this condition and the scientific background.