Argininosuccinic aciduria: Difference between revisions
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{{Infobox medical condition | |||
| name = Argininosuccinic aciduria | |||
| image = [[File:Argininosuccinic_acid.svg|200px]] | |||
| caption = Chemical structure of argininosuccinic acid | |||
| synonyms = Argininosuccinate lyase deficiency | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Hyperammonemia]], [[encephalopathy]], [[lethargy]], [[vomiting]], [[seizures]] | |||
| onset = [[Neonatal]] or later in life | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[ASL gene]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Newborn screening]], [[amino acid analysis]], [[genetic testing]] | |||
| differential = Other [[urea cycle disorders]] | |||
| prevention = None | |||
| treatment = [[Low-protein diet]], [[ammonia scavengers]], [[arginine]] supplementation | |||
| medication = [[Sodium phenylbutyrate]], [[sodium benzoate]] | |||
| prognosis = Variable, depends on early diagnosis and management | |||
| frequency = 1 in 70,000 live births | |||
| deaths = Can be fatal if untreated | |||
}} | |||
{{Short description|A rare genetic disorder affecting the urea cycle}} | {{Short description|A rare genetic disorder affecting the urea cycle}} | ||
[[File:Argininosuccinic_acid.svg|left|thumb|Chemical structure of argininosuccinic acid]] | |||
[[File:Argininosuccinic_acid.svg|thumb | |||
'''Argininosuccinic aciduria''' is a rare [[genetic disorder]] that affects the [[urea cycle]], a series of biochemical reactions that occur in the [[liver]] to remove [[ammonia]] from the bloodstream. This condition is characterized by the accumulation of [[argininosuccinic acid]] in the blood and urine, leading to a variety of symptoms and potential complications. | '''Argininosuccinic aciduria''' is a rare [[genetic disorder]] that affects the [[urea cycle]], a series of biochemical reactions that occur in the [[liver]] to remove [[ammonia]] from the bloodstream. This condition is characterized by the accumulation of [[argininosuccinic acid]] in the blood and urine, leading to a variety of symptoms and potential complications. | ||
==Pathophysiology== | ==Pathophysiology== | ||
Argininosuccinic aciduria is caused by a deficiency of the enzyme [[argininosuccinate lyase]] (ASL), which is responsible for the conversion of argininosuccinic acid into [[arginine]] and [[fumarate]]. This enzyme deficiency disrupts the urea cycle, resulting in the accumulation of ammonia and argininosuccinic acid in the body. Elevated levels of ammonia can be toxic, particularly to the [[central nervous system]], leading to neurological symptoms. | Argininosuccinic aciduria is caused by a deficiency of the enzyme [[argininosuccinate lyase]] (ASL), which is responsible for the conversion of argininosuccinic acid into [[arginine]] and [[fumarate]]. This enzyme deficiency disrupts the urea cycle, resulting in the accumulation of ammonia and argininosuccinic acid in the body. Elevated levels of ammonia can be toxic, particularly to the [[central nervous system]], leading to neurological symptoms. | ||
==Genetics== | ==Genetics== | ||
The disorder is inherited in an [[autosomal recessive]] pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. The gene responsible for argininosuccinic aciduria is located on [[chromosome 7]] and is known as the ASL gene. Mutations in this gene lead to reduced or absent activity of the argininosuccinate lyase enzyme. | The disorder is inherited in an [[autosomal recessive]] pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. The gene responsible for argininosuccinic aciduria is located on [[chromosome 7]] and is known as the ASL gene. Mutations in this gene lead to reduced or absent activity of the argininosuccinate lyase enzyme. | ||
==Clinical Presentation== | ==Clinical Presentation== | ||
Symptoms of argininosuccinic aciduria can vary widely among affected individuals. Common symptoms include: | Symptoms of argininosuccinic aciduria can vary widely among affected individuals. Common symptoms include: | ||
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* [[Developmental delay]] | * [[Developmental delay]] | ||
* [[Hepatomegaly]] | * [[Hepatomegaly]] | ||
In severe cases, the condition can lead to [[coma]] and can be life-threatening if not treated promptly. | In severe cases, the condition can lead to [[coma]] and can be life-threatening if not treated promptly. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of argininosuccinic aciduria is typically made through a combination of clinical evaluation, biochemical testing, and genetic testing. Elevated levels of argininosuccinic acid in the blood and urine are indicative of the disorder. Genetic testing can confirm mutations in the ASL gene. | Diagnosis of argininosuccinic aciduria is typically made through a combination of clinical evaluation, biochemical testing, and genetic testing. Elevated levels of argininosuccinic acid in the blood and urine are indicative of the disorder. Genetic testing can confirm mutations in the ASL gene. | ||
==Treatment== | ==Treatment== | ||
Management of argininosuccinic aciduria involves dietary modifications and medications to reduce ammonia levels. Treatment strategies may include: | Management of argininosuccinic aciduria involves dietary modifications and medications to reduce ammonia levels. Treatment strategies may include: | ||
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* Supplementation with [[arginine]] | * Supplementation with [[arginine]] | ||
* Medications such as [[sodium phenylbutyrate]] or [[sodium benzoate]] to help remove ammonia from the body | * Medications such as [[sodium phenylbutyrate]] or [[sodium benzoate]] to help remove ammonia from the body | ||
In some cases, [[liver transplantation]] may be considered as a treatment option. | In some cases, [[liver transplantation]] may be considered as a treatment option. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with argininosuccinic aciduria varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and management are crucial for improving outcomes and preventing complications. | The prognosis for individuals with argininosuccinic aciduria varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and management are crucial for improving outcomes and preventing complications. | ||
==See also== | |||
== | |||
* [[Urea cycle disorder]] | * [[Urea cycle disorder]] | ||
* [[Hyperammonemia]] | * [[Hyperammonemia]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
{{Urea cycle disorders}} | {{Urea cycle disorders}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 17:03, 4 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
| Argininosuccinic aciduria | |
|---|---|
| |
| Synonyms | Argininosuccinate lyase deficiency |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Hyperammonemia, encephalopathy, lethargy, vomiting, seizures |
| Complications | N/A |
| Onset | Neonatal or later in life |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the ASL gene |
| Risks | Family history of the condition |
| Diagnosis | Newborn screening, amino acid analysis, genetic testing |
| Differential diagnosis | Other urea cycle disorders |
| Prevention | None |
| Treatment | Low-protein diet, ammonia scavengers, arginine supplementation |
| Medication | Sodium phenylbutyrate, sodium benzoate |
| Prognosis | Variable, depends on early diagnosis and management |
| Frequency | 1 in 70,000 live births |
| Deaths | Can be fatal if untreated |
A rare genetic disorder affecting the urea cycle
Argininosuccinic aciduria is a rare genetic disorder that affects the urea cycle, a series of biochemical reactions that occur in the liver to remove ammonia from the bloodstream. This condition is characterized by the accumulation of argininosuccinic acid in the blood and urine, leading to a variety of symptoms and potential complications.
Pathophysiology[edit]
Argininosuccinic aciduria is caused by a deficiency of the enzyme argininosuccinate lyase (ASL), which is responsible for the conversion of argininosuccinic acid into arginine and fumarate. This enzyme deficiency disrupts the urea cycle, resulting in the accumulation of ammonia and argininosuccinic acid in the body. Elevated levels of ammonia can be toxic, particularly to the central nervous system, leading to neurological symptoms.
Genetics[edit]
The disorder is inherited in an autosomal recessive pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. The gene responsible for argininosuccinic aciduria is located on chromosome 7 and is known as the ASL gene. Mutations in this gene lead to reduced or absent activity of the argininosuccinate lyase enzyme.
Clinical Presentation[edit]
Symptoms of argininosuccinic aciduria can vary widely among affected individuals. Common symptoms include:
In severe cases, the condition can lead to coma and can be life-threatening if not treated promptly.
Diagnosis[edit]
Diagnosis of argininosuccinic aciduria is typically made through a combination of clinical evaluation, biochemical testing, and genetic testing. Elevated levels of argininosuccinic acid in the blood and urine are indicative of the disorder. Genetic testing can confirm mutations in the ASL gene.
Treatment[edit]
Management of argininosuccinic aciduria involves dietary modifications and medications to reduce ammonia levels. Treatment strategies may include:
- A low-protein diet to reduce ammonia production
- Supplementation with arginine
- Medications such as sodium phenylbutyrate or sodium benzoate to help remove ammonia from the body
In some cases, liver transplantation may be considered as a treatment option.
Prognosis[edit]
The prognosis for individuals with argininosuccinic aciduria varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and management are crucial for improving outcomes and preventing complications.
See also[edit]
| Urea cycle disorders | ||||||||
|---|---|---|---|---|---|---|---|---|
|
