Glycine encephalopathy
Glycine Encephalopathy
Glycine encephalopathy (pronunciation: gli-SEEN en-sef-uh-LOP-uh-thee), also known as Nonketotic hyperglycinemia (NKH), is a rare genetic disorder characterized by abnormally high levels of an amino acid called glycine in the body.
Etymology
The term "Glycine encephalopathy" is derived from the Greek words "glykys" meaning sweet, referring to the amino acid glycine, and "encephalos" meaning brain, combined with the suffix "-pathy" from the Greek "pathos" meaning suffering or disease.
Symptoms
Symptoms of glycine encephalopathy can vary greatly, but often include seizures, intellectual disability, and hypotonia (reduced muscle tone). In severe cases, it can lead to coma and death.
Causes
Glycine encephalopathy is caused by mutations in the GLDC, AMT, or GCSH genes. These genes are involved in the breakdown of glycine in the body. When these genes are mutated, glycine is not broken down properly, leading to its accumulation in the body.
Diagnosis
Diagnosis of glycine encephalopathy is typically made through biochemical testing of the blood and urine, which can detect elevated levels of glycine. Genetic testing can also be used to identify mutations in the GLDC, AMT, or GCSH genes.
Treatment
There is currently no cure for glycine encephalopathy. Treatment is focused on managing symptoms and may include medications to control seizures and dietary restrictions to limit glycine intake.
Prognosis
The prognosis for individuals with glycine encephalopathy varies depending on the severity of the condition. Some individuals may live into adulthood with appropriate management, while others may have a significantly shortened lifespan due to complications from the disease.
See Also
External links
- Medical encyclopedia article on Glycine encephalopathy
- Wikipedia's article - Glycine encephalopathy
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