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N-Acetylglutamate Synthetase Deficiency synonyms

What other names are the N-Acetylglutamate Synthetase Deficiency known by? Synonyms and other terms with which N-Acetylglutamate Synthetase Deficiency is known.

N-Acetylglutamate Synthetase Deficiency is also known as...

N-Acetylglutamate Synthetase Deficiency Synonyms:


N-Acetylglutamate Synthetase Deficiency is a rare genetic disorder that affects the urea cycle, a process responsible for removing toxic ammonia from the body. This condition is also known by several other names, including:



  • Carbamoyl Phosphate Synthetase 1 Deficiency: This term refers to a specific subtype of N-Acetylglutamate Synthetase Deficiency, where the enzyme carbamoyl phosphate synthetase 1 is affected. It is characterized by a deficiency in the production of carbamoyl phosphate, a crucial component of the urea cycle.

  • CPS1 Deficiency: CPS1 stands for carbamoyl phosphate synthetase 1, the enzyme that is deficient in this subtype of N-Acetylglutamate Synthetase Deficiency. CPS1 deficiency leads to impaired ammonia detoxification and can result in severe neurological symptoms.

  • Urea Cycle Disorder: N-Acetylglutamate Synthetase Deficiency is classified as a urea cycle disorder, a group of genetic conditions that affect the body's ability to break down and eliminate ammonia. Urea cycle disorders can cause a buildup of ammonia in the blood, leading to potentially life-threatening complications.

  • Hyperammonemia: Hyperammonemia refers to the elevated levels of ammonia in the blood that occur as a result of N-Acetylglutamate Synthetase Deficiency. This condition can lead to neurological symptoms, such as seizures, lethargy, and developmental delays.


It is important to note that N-Acetylglutamate Synthetase Deficiency is a rare disorder, and individuals affected by it may experience a range of symptoms and severity. Early diagnosis and appropriate management are crucial in preventing complications and ensuring the best possible outcomes for individuals with this condition.


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