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

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.

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

We are just a call away. Call us at - 405-283-3244. 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.