Sarcosinemia: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Sarcosinemia | |||
| image = [[File:Sarcosine.svg|left|thumb|Chemical structure of sarcosine]] | |||
| caption = Chemical structure of sarcosine | |||
| field = [[Metabolic disorder]] | |||
| symptoms = [[Developmental delay]], [[seizures]], [[hypotonia]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Blood test]], [[urine test]] | |||
| differential = [[Nonketotic hyperglycinemia]], [[other aminoacidurias]] | |||
| treatment = [[Dietary management]], [[symptomatic treatment]] | |||
| prognosis = [[Variable]] | |||
| frequency = [[Rare]] | |||
}} | |||
[[File:Autosomal recessive - en.svg|Autosomal recessive inheritance|thumb|left]] | |||
'''Sarcosinemia''' is a rare metabolic disorder characterized by an excess of the amino acid sarcosine in the blood plasma. It is caused by a deficiency of the enzyme sarcosine dehydrogenase, which is responsible for the breakdown of sarcosine in the body. The condition is usually benign and does not cause any symptoms or health problems. However, in some cases, it can lead to neurological problems such as mental retardation and seizures. | '''Sarcosinemia''' is a rare metabolic disorder characterized by an excess of the amino acid sarcosine in the blood plasma. It is caused by a deficiency of the enzyme sarcosine dehydrogenase, which is responsible for the breakdown of sarcosine in the body. The condition is usually benign and does not cause any symptoms or health problems. However, in some cases, it can lead to neurological problems such as mental retardation and seizures. | ||
== Causes == | == Causes == | ||
Sarcosinemia is caused by a deficiency of the enzyme [[sarcosine dehydrogenase]], which is responsible for the breakdown of [[sarcosine]] in the body. This enzyme deficiency is usually due to a genetic mutation. | Sarcosinemia is caused by a deficiency of the enzyme [[sarcosine dehydrogenase]], which is responsible for the breakdown of [[sarcosine]] in the body. This enzyme deficiency is usually due to a genetic mutation. | ||
== Symptoms == | == Symptoms == | ||
Most individuals with sarcosinemia do not exhibit any symptoms. However, in some cases, the condition can lead to neurological problems such as [[mental retardation]] and [[seizures]]. | Most individuals with sarcosinemia do not exhibit any symptoms. However, in some cases, the condition can lead to neurological problems such as [[mental retardation]] and [[seizures]]. | ||
== Diagnosis == | == Diagnosis == | ||
Sarcosinemia is diagnosed through a blood test that measures the level of sarcosine in the blood plasma. A high level of sarcosine is indicative of the condition. | Sarcosinemia is diagnosed through a blood test that measures the level of sarcosine in the blood plasma. A high level of sarcosine is indicative of the condition. | ||
== Treatment == | == Treatment == | ||
There is currently no specific treatment for sarcosinemia. Management of the condition typically involves regular monitoring of sarcosine levels in the blood and management of any neurological symptoms if they occur. | There is currently no specific treatment for sarcosinemia. Management of the condition typically involves regular monitoring of sarcosine levels in the blood and management of any neurological symptoms if they occur. | ||
== See also == | == See also == | ||
* [[Amino acid metabolism disorder]] | * [[Amino acid metabolism disorder]] | ||
* [[Inborn errors of metabolism]] | * [[Inborn errors of metabolism]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 14:31, 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
| Sarcosinemia | |
|---|---|
 | |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, seizures, hypotonia |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Blood test, urine test |
| Differential diagnosis | Nonketotic hyperglycinemia, other aminoacidurias |
| Prevention | N/A |
| Treatment | Dietary management, symptomatic treatment |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | N/A |
Sarcosinemia is a rare metabolic disorder characterized by an excess of the amino acid sarcosine in the blood plasma. It is caused by a deficiency of the enzyme sarcosine dehydrogenase, which is responsible for the breakdown of sarcosine in the body. The condition is usually benign and does not cause any symptoms or health problems. However, in some cases, it can lead to neurological problems such as mental retardation and seizures.
Causes[edit]
Sarcosinemia is caused by a deficiency of the enzyme sarcosine dehydrogenase, which is responsible for the breakdown of sarcosine in the body. This enzyme deficiency is usually due to a genetic mutation.
Symptoms[edit]
Most individuals with sarcosinemia do not exhibit any symptoms. However, in some cases, the condition can lead to neurological problems such as mental retardation and seizures.
Diagnosis[edit]
Sarcosinemia is diagnosed through a blood test that measures the level of sarcosine in the blood plasma. A high level of sarcosine is indicative of the condition.
Treatment[edit]
There is currently no specific treatment for sarcosinemia. Management of the condition typically involves regular monitoring of sarcosine levels in the blood and management of any neurological symptoms if they occur.
