Glycine encephalopathy: Difference between revisions
CSV import |
No edit summary |
||
| Line 2: | Line 2: | ||
== Glycine Encephalopathy == | == Glycine Encephalopathy == | ||
'''Glycine encephalopathy''', also known as '''non-ketotic hyperglycinemia''', is a rare [[genetic disorder]] characterized by an accumulation of the amino acid [[glycine]] in the body, particularly affecting the [[central nervous system]]. This condition is caused by a defect in the glycine cleavage system, which is responsible for breaking down glycine in the body. | '''Glycine encephalopathy''', also known as '''non-ketotic hyperglycinemia''', is a rare [[genetic disorder]] characterized by an accumulation of the amino acid [[glycine]] in the body, particularly affecting the [[central nervous system]]. This condition is caused by a defect in the glycine cleavage system, which is responsible for breaking down glycine in the body. | ||
Revision as of 20:27, 15 February 2025
Glycine Encephalopathy
Glycine encephalopathy, also known as non-ketotic hyperglycinemia, is a rare genetic disorder characterized by an accumulation of the amino acid glycine in the body, particularly affecting the central nervous system. This condition is caused by a defect in the glycine cleavage system, which is responsible for breaking down glycine in the body.
Pathophysiology
Glycine encephalopathy is primarily caused by mutations in the genes that encode the components of the glycine cleavage system. This system is composed of four protein components: P-protein, T-protein, H-protein, and L-protein. Mutations in the GLDC gene, which encodes the P-protein, are the most common cause of the disorder. The accumulation of glycine in the brain leads to neurological symptoms due to its role as an inhibitory neurotransmitter.
Clinical Features
The clinical presentation of glycine encephalopathy can vary, but it typically includes severe neurological symptoms. These may include:
- Hypotonia (reduced muscle tone)
- Seizures
- Developmental delay
- Lethargy
- Apnea
The severity of symptoms can range from mild to severe, with the most severe cases presenting in the neonatal period.
Diagnosis
Diagnosis of glycine encephalopathy is based on clinical features, biochemical testing, and genetic analysis. Elevated levels of glycine in the blood and cerebrospinal fluid (CSF) are indicative of the disorder. Genetic testing can confirm mutations in the genes associated with the glycine cleavage system.
Treatment
There is currently no cure for glycine encephalopathy. Treatment is primarily supportive and may include:
- Anticonvulsants to manage seizures
- Sodium benzoate to reduce glycine levels
- Physical therapy and occupational therapy to support development
Prognosis
The prognosis for individuals with glycine encephalopathy varies depending on the severity of the condition. Severe forms of the disorder are associated with significant neurological impairment and reduced life expectancy. Milder forms may allow for a longer lifespan with varying degrees of disability.
