Argininosuccinic aciduria

Argininosuccinic Aciduria

Argininosuccinic aciduria (pronounced ar-gi-ni-no-suc-cin-ic a-ci-du-ri-a) is a rare genetic disorder characterized by a deficiency of the enzyme argininosuccinate lyase. This enzyme is necessary for the production of arginine, a protein building block (amino acid) that plays a crucial role in the urea cycle, a series of reactions that occur in liver cells.

Etymology

The term "Argininosuccinic aciduria" is derived from the name of the enzyme "argininosuccinate lyase" and the term "aciduria," which refers to the presence of an acid in the urine. The term "aciduria" is derived from the Latin words "acidus" meaning "acid" and "uria" meaning "urine."

Symptoms

Symptoms of argininosuccinic aciduria can vary widely, from severe neonatal-onset disease to milder, later-onset forms. The most severe form, known as the "neonatal-onset" type, becomes apparent shortly after birth. Symptoms may include poor feeding, vomiting, lack of energy (lethargy), and seizures. Less severe forms, known as "late-onset" types, become apparent later in infancy or in childhood and are typically associated with slower growth, occasional episodes of vomiting and confusion, and intellectual disability.

Diagnosis

Diagnosis of argininosuccinic aciduria is based on the detection of increased levels of argininosuccinic acid in the urine, blood, or cerebrospinal fluid. This can be confirmed by genetic testing to identify mutations in the ASL gene, which provides instructions for making the enzyme argininosuccinate lyase.

Treatment

Treatment for argininosuccinic aciduria is aimed at managing the symptoms and preventing complications. This may include a low-protein diet, medications to help remove nitrogen from the body, and in some cases, liver transplantation.

Related Terms

• Urea cycle
• Arginine
• Argininosuccinate lyase
• ASL gene
• Amino acid
• Liver transplantation

External links

• Medical encyclopedia article on Argininosuccinic aciduria
• Wikipedia's article - Argininosuccinic aciduria

This WikiMD article is a stub. You can help make it a full article.

---

Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski