Argininobärnstenssyra
Argininosuccinic Aciduria
Argininosuccinic aciduria is a rare inherited metabolic disorder characterized by the accumulation of argininosuccinic acid in the body due to a deficiency in the enzyme argininosuccinate lyase. This condition leads to elevated levels of ammonia in the blood, which can cause neurological symptoms such as lethargy, vomiting, and seizures. If left untreated, it may result in intellectual disability, developmental delay, and coma. Early diagnosis and management with a low-protein diet, arginine supplementation, and nitrogen scavenging drugs are essential to prevent long-term complications.
Argininsuccinatlyas
Ett enzym som ingår i ureacykeln och som spjälkar upp argininsuccinat till fumarat och arginin. Brist på enzymet leder till ämnesomsättningsrubbningen argininosuccinaciduri (argininobärnstenssyruri). EC 4.3.2.1.
Aminosyror, medfödda ämnesomsättningsrubbningar
Inherited metabolic disorders of amino acids are genetic conditions that affect the body's ability to properly break down and process certain amino acids, which are the building blocks of proteins, leading to a toxic accumulation or deficiency of these compounds, causing various physical symptoms and health complications.