Glycine encephalopathy

Glycine encephalopathy, also known as nonketotic hyperglycinemia or NKH, is a rare genetic disorder characterized by abnormally high levels of the amino acid glycine in body fluids and tissues. The condition is caused by a deficiency in the enzyme system that breaks down glycine in the body.

Symptoms

The symptoms of glycine encephalopathy usually become apparent within a few days after birth. These may include lethargy, poor feeding, and seizures. In severe cases, infants with glycine encephalopathy may experience life-threatening complications.

Causes

Glycine encephalopathy is caused by mutations in the AMT, GLDC, or GCSH genes. These genes provide instructions for making proteins that work together to break down glycine in the body. Mutations in these genes disrupt the normal function of these proteins, leading to an accumulation of glycine.

Diagnosis

Diagnosis of glycine encephalopathy is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. These tests may include blood and urine tests to measure glycine levels, and genetic testing to identify mutations in the AMT, GLDC, or GCSH genes.

Treatment

Treatment of glycine encephalopathy is aimed at managing the symptoms and preventing complications. This may include medications to control seizures, dietary restrictions to limit glycine intake, and other supportive measures.

Prognosis

The prognosis for individuals with glycine encephalopathy varies. Some individuals may have a normal lifespan with appropriate management, while others may experience severe complications and have a shortened lifespan.

See also

• Amino acid metabolism disorder
• Genetic disorder
• Metabolic disorder

References

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