GPT2 Deficiency

Patient Assistance Program for GPT2 Deficiency

GPT2 Deficiency


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.

Signs and Symptoms

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:

  • Mild, moderate, or severe intellectual disability
  • Global developmental delay
  • Postnatal microcephaly
  • Failure to thrive
  • Low percentiles for weight and height
  • Poor feeding, including frequent vomiting
  • Ataxia
  • Apraxia
  • Dysarthria
  • Hyperreflexia
  • Oral-motor dysfunction
  • Hypotonia during infancy
  • Hypertonia later in childhood
  • Progressive spastic diplegia or paraplegia
  • Seizures
GPT2-deficiency

Causes of GPT2


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.

Affected Populations

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.


What does ASP Health do for patients?


Medical care is a necessary expense for many Americans. The cost of medical care has been skyrocketing in the United States. People have trouble paying their medical bills and this number is rising.

Patients with prescription drugs and/or medical equipment needs can access ASP Health programs funded by pharmaceutical companies or by governments.

ASP Health is a non-profit healthcare organization that provides comprehensive patient assistance and support services. ASP Health supports patients by providing certain medicines at low or no cost who otherwise cannot afford them.


GPT2-deficiency
GPT2-deficiency

Who can I contact if I want to avail ASP Health service?


We are just a call away. Call us at - 702 551 5212. We help you by every possible means. Whether it’s about filling up a form or giving suggestions on selecting a particular program according to your needs, we are here for you when you need us.

You can rely on us for quality care for all your needs.