N-Acetylglutamate synthase deficiency: Difference between revisions
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[[ | {{SI}} | ||
{{Infobox medical condition | |||
| name = N-Acetylglutamate synthase deficiency | |||
| image = [[File:(S)-N-Acetylglutamic_acid.svg|150px]] | |||
| caption = Structure of N-Acetylglutamic acid | |||
| synonyms = NAGS deficiency | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Hyperammonemia]], [[lethargy]], [[vomiting]], [[seizures]], [[coma]] | |||
| onset = [[Neonatal]] or later in life | |||
| duration = Lifelong | |||
| causes = Mutations in the [[NAGS gene]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[ammonia]] levels | |||
| differential = Other causes of hyperammonemia | |||
| treatment = [[Carbamoyl glutamate]] | |||
| medication = [[Carglumic acid]] | |||
| prognosis = Variable, depends on early diagnosis and treatment | |||
| frequency = Rare | |||
| deaths = Can be fatal if untreated | |||
}} | |||
'''N-Acetylglutamate synthase deficiency''' (NAGS deficiency) 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 blood. This condition is characterized by a deficiency of the enzyme [[N-acetylglutamate synthase]] (NAGS), which is essential for the production of [[N-acetylglutamate]] (NAG). NAG is a critical activator of [[carbamoyl phosphate synthetase I]] (CPS1), the first enzyme in the urea cycle. | |||
==Pathophysiology== | ==Pathophysiology== | ||
NAGS deficiency leads to a disruption in the urea cycle, resulting in the accumulation of ammonia in the blood, a condition known as [[hyperammonemia]]. Ammonia is toxic to the [[central nervous system]] and can cause a range of symptoms, from mild to severe, including [[lethargy]], [[vomiting]], [[seizures]], [[coma]], and even [[death]] if left untreated. | NAGS deficiency leads to a disruption in the urea cycle, resulting in the accumulation of ammonia in the blood, a condition known as [[hyperammonemia]]. Ammonia is toxic to the [[central nervous system]] and can cause a range of symptoms, from mild to severe, including [[lethargy]], [[vomiting]], [[seizures]], [[coma]], and even [[death]] if left untreated. | ||
==Genetics== | ==Genetics== | ||
NAGS deficiency is inherited in an [[autosomal recessive]] pattern, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected by the disorder. The gene responsible for NAGS deficiency is located on [[chromosome 17]]. | NAGS deficiency is inherited in an [[autosomal recessive]] pattern, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected by the disorder. The gene responsible for NAGS deficiency is located on [[chromosome 17]]. | ||
==Symptoms== | ==Symptoms== | ||
The symptoms of NAGS deficiency can vary widely but often include: | The symptoms of NAGS deficiency can vary widely but often include: | ||
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* [[Developmental delay]] | * [[Developmental delay]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of NAGS deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic testing. Elevated levels of ammonia in the blood, along with low levels of citrulline and arginine, may suggest a urea cycle disorder. Genetic testing can confirm the diagnosis by identifying mutations in the NAGS gene. | Diagnosis of NAGS deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic testing. Elevated levels of ammonia in the blood, along with low levels of citrulline and arginine, may suggest a urea cycle disorder. Genetic testing can confirm the diagnosis by identifying mutations in the NAGS gene. | ||
==Treatment== | ==Treatment== | ||
Treatment for NAGS deficiency focuses on managing hyperammonemia and preventing its recurrence. This may include: | Treatment for NAGS deficiency focuses on managing hyperammonemia and preventing its recurrence. This may include: | ||
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* Medications such as [[ammonia scavengers]] (e.g., sodium phenylbutyrate) | * Medications such as [[ammonia scavengers]] (e.g., sodium phenylbutyrate) | ||
* Supplementation with [[N-carbamylglutamate]] (NCG), a synthetic analog of NAG, to activate CPS1 | * Supplementation with [[N-carbamylglutamate]] (NCG), a synthetic analog of NAG, to activate CPS1 | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with NAGS deficiency varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and prompt treatment are crucial for preventing severe complications and improving outcomes. | The prognosis for individuals with NAGS deficiency varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and prompt treatment are crucial for preventing severe complications and improving outcomes. | ||
==See also== | ==See also== | ||
* [[Urea cycle disorder]] | * [[Urea cycle disorder]] | ||
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* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Metabolic disorder]] | * [[Metabolic disorder]] | ||
==References== | ==References== | ||
{{Reflist}} | {{Reflist}} | ||
==External links== | ==External links== | ||
{{Commons category|N-Acetylglutamate synthase deficiency}} | {{Commons category|N-Acetylglutamate synthase deficiency}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Autosomal recessive disorders]] | [[Category:Autosomal recessive disorders]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Revision as of 03:30, 8 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
| N-Acetylglutamate synthase deficiency | |
|---|---|
-N-Acetylglutamic_acid.svg)
| |
| Synonyms | NAGS deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hyperammonemia, lethargy, vomiting, seizures, coma |
| Complications | N/A |
| Onset | Neonatal or later in life |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the NAGS gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, ammonia levels |
| Differential diagnosis | Other causes of hyperammonemia |
| Prevention | N/A |
| Treatment | Carbamoyl glutamate |
| Medication | Carglumic acid |
| Prognosis | Variable, depends on early diagnosis and treatment |
| Frequency | Rare |
| Deaths | Can be fatal if untreated |
N-Acetylglutamate synthase deficiency (NAGS deficiency) 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 blood. This condition is characterized by a deficiency of the enzyme N-acetylglutamate synthase (NAGS), which is essential for the production of N-acetylglutamate (NAG). NAG is a critical activator of carbamoyl phosphate synthetase I (CPS1), the first enzyme in the urea cycle.
Pathophysiology
NAGS deficiency leads to a disruption in the urea cycle, resulting in the accumulation of ammonia in the blood, a condition known as hyperammonemia. Ammonia is toxic to the central nervous system and can cause a range of symptoms, from mild to severe, including lethargy, vomiting, seizures, coma, and even death if left untreated.
Genetics
NAGS deficiency is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected by the disorder. The gene responsible for NAGS deficiency is located on chromosome 17.
Symptoms
The symptoms of NAGS deficiency can vary widely but often include:
Diagnosis
Diagnosis of NAGS deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic testing. Elevated levels of ammonia in the blood, along with low levels of citrulline and arginine, may suggest a urea cycle disorder. Genetic testing can confirm the diagnosis by identifying mutations in the NAGS gene.
Treatment
Treatment for NAGS deficiency focuses on managing hyperammonemia and preventing its recurrence. This may include:
- Dietary management to limit ammonia production
- Medications such as ammonia scavengers (e.g., sodium phenylbutyrate)
- Supplementation with N-carbamylglutamate (NCG), a synthetic analog of NAG, to activate CPS1
Prognosis
The prognosis for individuals with NAGS deficiency varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and prompt treatment are crucial for preventing severe complications and improving outcomes.
See also
References
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External links
