How Do You Spell ARGININOSUCCINIC ACIDURIA?

1. Argininosuccinic aciduria is a rare inherited metabolic disorder that affects the body's ability to break down the amino acid arginine, resulting in a buildup of a toxic substance called argininosuccinic acid. This condition is caused by a deficiency of the enzyme argininosuccinate lyase (ASL), which is responsible for breaking down argininosuccinic acid into arginine and fumarate.

   Individuals with argininosuccinic aciduria typically experience symptoms in early infancy or childhood. These can include poor feeding and growth, vomiting, seizures, developmental delays, intellectual disability, and liver damage. If left untreated, the condition can lead to life-threatening complications such as high ammonia levels in the blood, which can result in brain damage or coma.

   Diagnosis of argininosuccinic aciduria is typically done through newborn screening tests that detect elevated levels of argininosuccinic acid or ammonia in the blood. Confirmatory tests may involve genetic analysis or enzyme activity tests to identify the ASL deficiency.

   Treatment for argininosuccinic aciduria involves strict dietary management, which aims to limit protein intake and provide supplements of arginine and citrulline. In some cases, medications such as nitrogen scavengers or sodium phenylbutyrate may be prescribed to help reduce ammonia levels in the body. Regular monitoring of blood ammonia levels is essential to prevent the accumulation of toxic substances and assess treatment effectiveness.

   Overall, early detection and appropriate management of argininosuccinic aciduria are crucial in minimizing symptoms, improving long-term outcomes, and preventing potentially life-threatening complications.

Common Misspellings for ARGININOSUCCINIC ACIDURIA

The term "argininosuccinic aciduria" is coined from the combination of multiple components:

1. Arginino-: Derived from the amino acid "arginine", which plays a vital role in protein metabolism.

2. Succinic: Referring to "succinic acid", a dicarboxylic acid involved in the citric acid cycle, essential for energy production in living organisms.

3. -uria: A suffix used in medical terminology to denote the presence of a substance in urine.

Therefore, "argininosuccinic aciduria" describes a genetic disorder characterized by the accumulation of argininosuccinic acid in the urine.

Plural form of ARGININOSUCCINIC ACIDURIA is ARGININOSUCCINIC ACIDURIAS