About Infantile glycine encephalopathy

What is Infantile glycine encephalopathy?

Infantile glycine encephalopathy, also known as nonketotic hyperglycinemia, is a rare genetic disorder that affects the brain. It is caused by a deficiency of the enzyme glycine cleavage system, which is responsible for breaking down the amino acid glycine. Symptoms of the disorder include seizures, developmental delays, hypotonia, and breathing problems. Treatment typically involves a combination of dietary modifications, medications, and supportive care.

What are the symptoms of Infantile glycine encephalopathy?

The symptoms of Infantile glycine encephalopathy vary from person to person, but can include:

-Developmental delay

-Seizures

-Feeding difficulties

-Weak muscle tone
-Breathing problems
-Growth failure
-Intellectual disability
-Behavioral problems
-Movement disorders
-Sleep disturbances
-Gastrointestinal issues
-Speech and language delays

What are the causes of Infantile glycine encephalopathy?

Infantile glycine encephalopathy is caused by a genetic mutation in the GLDC gene, which is responsible for producing an enzyme called glycine decarboxylase. This enzyme is responsible for breaking down the amino acid glycine in the body. When the enzyme is not functioning properly, glycine builds up in the brain, leading to the symptoms of infantile glycine encephalopathy.

What are the treatments for Infantile glycine encephalopathy?

The primary treatment for infantile glycine encephalopathy is dietary management. This includes a low-protein diet supplemented with essential amino acids, as well as medications to reduce the amount of glycine in the body. Other treatments may include physical therapy, occupational therapy, speech therapy, and medications to reduce seizures. In some cases, a liver transplant may be recommended.

What are the risk factors for Infantile glycine encephalopathy?

1. Genetic mutations in the GLDC gene, which is responsible for the production of the enzyme glycine decarboxylase.

2. Maternal exposure to certain medications, such as valproic acid, during pregnancy.

3. Low birth weight.

4. Premature birth.

5. Family history of the disorder.

6. Exposure to certain environmental toxins.

Is there a cure/medications for Infantile glycine encephalopathy?

Yes, there is a medication called sodium benzoate that can be used to treat Infantile glycine encephalopathy. It is used to reduce the levels of glycine in the brain and can help improve symptoms. However, it is important to note that this medication does not cure the condition, and it is important to work with a doctor to determine the best treatment plan for your child.