GPT2 (glutamate pyruvate transaminase 2 deficiency) deficiency leads to intellectual disability as well as progressive motor dysfunction due to a genetic, neurological, and metabolic disorder. As a result, this deficiency adversely affects the growth of the brain. Synapses, or connections between neurons, are essential to the development of the brain.
The majority of affected babies are born with low muscle tone (hypotonia) and have too much muscle tone (hypertonia) later in life. Movement and coordination problems are common in most individuals. Reported and researched symptoms are given below:
A GPT2 deficiency is caused by a loss-of-function mutation in the GPT2 gene. Glutamate pyruvate transaminase 2 (GPT2) is an enzyme vital to mitochondrial function. Often, loss-of-function mutations result in the inactivation of critical enzymes and proteins. A GPT2 gene regulates the levels of metabolites essential to brain development.
At present, GPT2 deficiency is considered an ultra-rare condition with a very small number of cases reported, and it is often unrecognized or misdiagnosed.
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