HYPERARGININEMIA Meaning and
Definition
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Hyperargininemia is a rare genetic disorder characterized by the excessive accumulation of the amino acid arginine in the blood. Arginine is a vital component of proteins and plays a crucial role in various metabolic processes in the body. However, in individuals with hyperargininemia, a specific enzyme called arginase is either deficient or non-functional, leading to the impaired breakdown of arginine.
The excessive build-up of arginine in the body can have detrimental effects on multiple organ systems. It primarily affects the central nervous system, causing neurological symptoms. Infants with hyperargininemia may display delayed development, intellectual disability, seizures, and progressive loss of motor skills. Other common symptoms may include spasticity (increased muscle tone), muscle weakness, behavioral abnormalities, and growth retardation.
Diagnosis of hyperargininemia is typically done through blood tests that measure the levels of arginine and other amino acids. DNA testing is often employed to confirm the underlying genetic mutation responsible for the disorder.
Treatment for hyperargininemia mainly focuses on managing the symptoms and minimizing the levels of arginine in the blood. This is achieved through dietary interventions that restrict the intake of arginine-rich foods. Additionally, medications may be prescribed to help remove excess arginine from the body or enhance its breakdown. Regular monitoring and proactive management of symptoms are essential to optimize the overall well-being of individuals with hyperargininemia.
Common Misspellings for HYPERARGININEMIA
- gyperargininemia
- byperargininemia
- nyperargininemia
- jyperargininemia
- uyperargininemia
- yyperargininemia
- htperargininemia
- hgperargininemia
- hhperargininemia
- huperargininemia
- h7perargininemia
- h6perargininemia
- hyoerargininemia
- hylerargininemia
- hy-erargininemia
- hy0erargininemia
- hypwrargininemia
- hypsrargininemia
- hypdrargininemia
- hyprrargininemia
Etymology of HYPERARGININEMIA
The word "Hyperargininemia" is a medical term that combines three different components: "hyper-", "arginine", and "-emia".
1. "Hyper-" is a prefix in English, derived from the Greek word "huper" (meaning "over" or "excessive"), which indicates an abnormal or increased state or condition.
2. "Arginine" refers to an amino acid that is one of the building blocks of proteins. The term is derived from the Greek word "argyros" (meaning "silver"), as it was first isolated from silver chloride.
3. "-emia" is a suffix derived from the Greek word "haima" (meaning "blood"), often used to indicate a condition that affects the blood.
Combining these components, "hyperargininemia" refers to a genetic disorder characterized by abnormally elevated levels of arginine in the blood.
