Argininosuccinic Aciduria

**Semantic type:** Disease or Syndrome

**Definition:** A genetic inherited disorder caused by mutations in the ASL gene. It is characterized by accumulation of ammonia in the blood. It presents with lethargy in the first few days of life, accompanied by developmental delay and mental retardation.

**Synonyms:** - Argininosuccinate Lyase Deficiency - Argininosuccinate Lyase Deficiency