Cystathioninuria: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Cystathioninuria | |||
| image = [[File:L-Cystathionine.svg|left|thumb|L-Cystathionine]] | |||
| caption = L-Cystathionine | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[intellectual disability]], [[seizures]] | |||
| onset = [[Infancy]] or [[early childhood]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] in the [[cystathionine gamma-lyase]] (CTH) gene | |||
| risks = [[Consanguinity]], [[family history]] | |||
| diagnosis = [[Urine test]] for elevated [[cystathionine]] levels | |||
| differential = [[Homocystinuria]], [[cystinuria]], [[hyperhomocysteinemia]] | |||
| treatment = [[Dietary management]], [[vitamin B6]] supplementation | |||
| prognosis = Variable, depending on severity and management | |||
| frequency = Rare | |||
}} | |||
[[File:Autosomal recessive - en.svg|Autosomal Recessive Inheritance|thumb]] | |||
'''Cystathioninuria''' is a rare [[metabolic disorder]] characterized by an excess of the [[amino acid]] cystathionine in the [[urine]]. This condition is generally considered benign, as affected individuals are typically asymptomatic and have normal life expectancy. However, some studies suggest that individuals with cystathioninuria may have an increased risk of developing [[neurological]] complications, such as [[intellectual disability]] and [[psychiatric disorders]]. | '''Cystathioninuria''' is a rare [[metabolic disorder]] characterized by an excess of the [[amino acid]] cystathionine in the [[urine]]. This condition is generally considered benign, as affected individuals are typically asymptomatic and have normal life expectancy. However, some studies suggest that individuals with cystathioninuria may have an increased risk of developing [[neurological]] complications, such as [[intellectual disability]] and [[psychiatric disorders]]. | ||
==Causes== | ==Causes== | ||
Cystathioninuria is caused by mutations in the [[CBS gene]], which provides instructions for making an enzyme called cystathionine beta-synthase. This enzyme plays a crucial role in the process of breaking down the amino acid [[methionine]]. Mutations in the CBS gene reduce the activity of cystathionine beta-synthase, leading to an accumulation of cystathionine in the body. | Cystathioninuria is caused by mutations in the [[CBS gene]], which provides instructions for making an enzyme called cystathionine beta-synthase. This enzyme plays a crucial role in the process of breaking down the amino acid [[methionine]]. Mutations in the CBS gene reduce the activity of cystathionine beta-synthase, leading to an accumulation of cystathionine in the body. | ||
==Symptoms== | ==Symptoms== | ||
Most individuals with cystathioninuria do not show any symptoms. However, in rare cases, affected individuals may exhibit neurological complications, such as intellectual disability and psychiatric disorders. The relationship between these complications and cystathioninuria is not well understood. | Most individuals with cystathioninuria do not show any symptoms. However, in rare cases, affected individuals may exhibit neurological complications, such as intellectual disability and psychiatric disorders. The relationship between these complications and cystathioninuria is not well understood. | ||
==Diagnosis== | ==Diagnosis== | ||
Cystathioninuria is diagnosed through a urine test that measures the levels of cystathionine. Genetic testing can also be used to identify mutations in the CBS gene. | Cystathioninuria is diagnosed through a urine test that measures the levels of cystathionine. Genetic testing can also be used to identify mutations in the CBS gene. | ||
==Treatment== | ==Treatment== | ||
There is currently no specific treatment for cystathioninuria. Management of the condition typically involves regular monitoring of cystathionine levels and, in some cases, dietary modifications to limit the intake of methionine. | There is currently no specific treatment for cystathioninuria. Management of the condition typically involves regular monitoring of cystathionine levels and, in some cases, dietary modifications to limit the intake of methionine. | ||
==See also== | ==See also== | ||
* [[Amino acid disorder]] | * [[Amino acid disorder]] | ||
* [[Metabolic disorder]] | * [[Metabolic disorder]] | ||
* [[CBS gene]] | * [[CBS gene]] | ||
* [[Methionine]] | * [[Methionine]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 13:36, 5 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
| Cystathioninuria | |
|---|---|
 | |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, intellectual disability, seizures |
| Complications | N/A |
| Onset | Infancy or early childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the cystathionine gamma-lyase (CTH) gene |
| Risks | Consanguinity, family history |
| Diagnosis | Urine test for elevated cystathionine levels |
| Differential diagnosis | Homocystinuria, cystinuria, hyperhomocysteinemia |
| Prevention | N/A |
| Treatment | Dietary management, vitamin B6 supplementation |
| Medication | N/A |
| Prognosis | Variable, depending on severity and management |
| Frequency | Rare |
| Deaths | N/A |
Cystathioninuria is a rare metabolic disorder characterized by an excess of the amino acid cystathionine in the urine. This condition is generally considered benign, as affected individuals are typically asymptomatic and have normal life expectancy. However, some studies suggest that individuals with cystathioninuria may have an increased risk of developing neurological complications, such as intellectual disability and psychiatric disorders.
Causes[edit]
Cystathioninuria is caused by mutations in the CBS gene, which provides instructions for making an enzyme called cystathionine beta-synthase. This enzyme plays a crucial role in the process of breaking down the amino acid methionine. Mutations in the CBS gene reduce the activity of cystathionine beta-synthase, leading to an accumulation of cystathionine in the body.
Symptoms[edit]
Most individuals with cystathioninuria do not show any symptoms. However, in rare cases, affected individuals may exhibit neurological complications, such as intellectual disability and psychiatric disorders. The relationship between these complications and cystathioninuria is not well understood.
Diagnosis[edit]
Cystathioninuria is diagnosed through a urine test that measures the levels of cystathionine. Genetic testing can also be used to identify mutations in the CBS gene.
Treatment[edit]
There is currently no specific treatment for cystathioninuria. Management of the condition typically involves regular monitoring of cystathionine levels and, in some cases, dietary modifications to limit the intake of methionine.
