Arginase deficiency
Arginase Deficiency
Arginase deficiency (pronounced: ar-jin-ase de-fi-ciency) is a rare genetic disorder characterized by the body's inability to produce sufficient amounts of the enzyme arginase. This deficiency leads to an accumulation of arginine and ammonia in the blood, causing various neurological symptoms.
Etymology
The term "Arginase deficiency" is derived from the name of the enzyme "Arginase" and the term "deficiency", which refers to the lack or insufficiency of something. The enzyme Arginase is named after the amino acid Arginine, which it helps to break down in the body.
Symptoms
The symptoms of Arginase deficiency typically appear in early childhood and may include spasticity, developmental delay, seizures, and hyperactivity. In severe cases, it can lead to intellectual disability and loss of motor skills.
Diagnosis
Diagnosis of Arginase deficiency is typically made through biochemical testing and genetic testing. Biochemical testing involves measuring the levels of arginine and ammonia in the blood, while genetic testing involves looking for mutations in the ARG1 gene, which is responsible for producing the arginase enzyme.
Treatment
Treatment for Arginase deficiency is primarily focused on managing symptoms and preventing complications. This may involve a low-protein diet to reduce the levels of arginine in the body, medications to control seizures and spasticity, and physical therapy to improve motor skills.
Related Terms
External links
- Medical encyclopedia article on Arginase deficiency
- Wikipedia's article - Arginase deficiency
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