Hyperargininemia
Hyperargininemia Hyperargininemia is a rare genetic disorder characterized by elevated levels of the amino acid arginine in the blood. It is a type of urea cycle disorder, which affects the body's ability to remove ammonia from the bloodstream. This condition is caused by a deficiency in the enzyme arginase, which is responsible for breaking down arginine into urea and ornithine.
Causes[edit | edit source]
Hyperargininemia is caused by mutations in the ARG1 gene, which provides instructions for making the enzyme arginase. This enzyme is crucial for the final step of the urea cycle, a process that converts excess nitrogen, in the form of ammonia, into urea for excretion from the body. When arginase is deficient or absent, arginine accumulates in the blood, leading to the symptoms of hyperargininemia.
Symptoms[edit | edit source]
The symptoms of hyperargininemia can vary but often include:
- Developmental delay
- Spasticity (increased muscle tone)
- Seizures
- Growth retardation
- Intellectual disability
Diagnosis[edit | edit source]
Diagnosis of hyperargininemia typically involves:
- Blood tests to measure amino acid levels, particularly arginine
- Genetic testing to identify mutations in the ARG1 gene
- Ammonia levels in the blood may also be elevated
Treatment[edit | edit source]
Treatment for hyperargininemia focuses on managing symptoms and reducing arginine levels in the blood. This may include:
- A low-protein diet to reduce arginine intake
- Medications such as sodium benzoate or sodium phenylbutyrate to help remove excess nitrogen
- Physical therapy to manage spasticity
Prognosis[edit | edit source]
The prognosis for individuals with hyperargininemia varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and management can improve outcomes and quality of life.
See also[edit | edit source]
External links[edit | edit source]
NIH genetic and rare disease info[edit source]
Hyperargininemia is a rare disease.
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