GPT2 Deficiency is an ultra-rare disease caused by loss-of-function mutations in the GPT2 gene and is inherited in an autosomal recessive manner, whereby a child inherits two non-working genes, one from each parent. This disease can be traced to Chromosome 16.
This disease hinders brain development by compromising neuronal growth. Brain cells fail to connect and interact properly resulting in cognitive and motor disability.
Signs & Symptoms
GPT2 Deficiency is generally characterized by varying levels of intellectual disability. Most individuals also experience irregular muscle tone and coordination and movement problems. A GPT2 Deficiency diagnosis must be confirmed through genetic testing.
Frequently Asked Questions
Find detailed answers to some of the more common questions about this disease.