Glycine encephalopathy: Difference between revisions
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{{Infobox medical condition | |||
| name = Glycine encephalopathy | |||
| image = [[File:Glycin_-_Glycine.svg|alt=Glycine structure|frameless]] | |||
| caption = Structure of [[glycine]] | |||
| synonyms = Non-ketotic hyperglycinemia | |||
| pronounce = | |||
| specialty = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Seizures]], [[hypotonia]], [[lethargy]], [[developmental delay]] | |||
| onset = [[Neonatal]] period | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Genetic testing]], [[CSF]]/plasma glycine ratio | |||
| differential = [[Ketotic hyperglycinemia]], [[Urea cycle disorder]] | |||
| treatment = [[Sodium benzoate]], [[dextromethorphan]], [[antiepileptic drugs]] | |||
| prognosis = Variable, often poor | |||
| frequency = Rare | |||
}} | |||
{{DISPLAYTITLE:Glycine Encephalopathy}} | {{DISPLAYTITLE:Glycine Encephalopathy}} | ||
[[File:autorecessive.svg|Glycine encephalopathy|thumb|left]] | |||
'''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. | ||
== Pathophysiology == | == 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. | 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 == | == Clinical Features == | ||
The clinical presentation of glycine encephalopathy can vary, but it typically includes severe [[neurological]] symptoms. These may include: | The clinical presentation of glycine encephalopathy can vary, but it typically includes severe [[neurological]] symptoms. These may include: | ||
* [[Hypotonia]] (reduced muscle tone) | * [[Hypotonia]] (reduced muscle tone) | ||
* [[Seizures]] | * [[Seizures]] | ||
| Line 18: | Line 30: | ||
* [[Lethargy]] | * [[Lethargy]] | ||
* [[Apnea]] | * [[Apnea]] | ||
The severity of symptoms can range from mild to severe, with the most severe cases presenting in the neonatal period. | The severity of symptoms can range from mild to severe, with the most severe cases presenting in the neonatal period. | ||
== Diagnosis == | == 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. | 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 == | == Treatment == | ||
There is currently no cure for glycine encephalopathy. Treatment is primarily supportive and may include: | There is currently no cure for glycine encephalopathy. Treatment is primarily supportive and may include: | ||
* [[Anticonvulsants]] to manage seizures | * [[Anticonvulsants]] to manage seizures | ||
* [[Sodium benzoate]] to reduce glycine levels | * [[Sodium benzoate]] to reduce glycine levels | ||
* [[Physical therapy]] and [[occupational therapy]] to support development | * [[Physical therapy]] and [[occupational therapy]] to support development | ||
== Prognosis == | == 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. | 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. | ||
== See also == | |||
== | |||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Amino acid]] | * [[Amino acid]] | ||
* [[Neurotransmitter]] | * [[Neurotransmitter]] | ||
* [[Seizure disorder]] | * [[Seizure disorder]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
Latest revision as of 04:21, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Glycine encephalopathy | |
|---|---|
| |
| Synonyms | Non-ketotic hyperglycinemia |
| Pronounce | |
| Specialty | Neurology, Genetics |
| Symptoms | Seizures, hypotonia, lethargy, developmental delay |
| Complications | N/A |
| Onset | Neonatal period |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Genetic testing, CSF/plasma glycine ratio |
| Differential diagnosis | Ketotic hyperglycinemia, Urea cycle disorder |
| Prevention | N/A |
| Treatment | Sodium benzoate, dextromethorphan, antiepileptic drugs |
| Medication | N/A |
| Prognosis | Variable, often poor |
| Frequency | Rare |
| Deaths | N/A |
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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.
