Argininemia
Argininemia
Argininemia (pronounced ar-gi-ni-ne-mi-a), also known as arginase deficiency, is a rare inherited disorder characterized by elevated levels of the amino acid arginine in the blood. It is a type of urea cycle disorder.
Etymology
The term "Argininemia" is derived from the name of the amino acid "Arginine" and the Greek word "haima" meaning blood. It refers to the condition where there is an excess of arginine in the blood.
Definition
Argininemia is a genetic disorder that affects the body's ability to remove waste products from the body. This condition is caused by mutations in the ARG1 gene, which provides instructions for producing an enzyme called arginase. This enzyme is responsible for the final step in the breakdown of proteins, where it converts arginine into ornithine and urea, which is then excreted in the urine.
Symptoms
Symptoms of argininemia may include poor growth, developmental delay, seizures, spasticity, and sometimes intellectual disability. These symptoms are typically seen in the first few years of life.
Diagnosis
Diagnosis of argininemia is typically made through a blood test that measures the levels of arginine in the blood. Genetic testing can also be done to identify mutations in the ARG1 gene.
Treatment
Treatment for argininemia typically involves a low-protein diet to reduce the levels of arginine in the blood. Medications may also be used to help remove excess arginine from the body. In some cases, liver transplantation may be considered.
Related Terms
External links
- Medical encyclopedia article on Argininemia
- Wikipedia's article - Argininemia
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