Tag: Argininosuccinic Aciduria


ALLAN DENT DISEASE

Introduction and Definition Allan Dent Disease (ADD) is classified as a severe, rare inherited metabolic disorder, falling specifically within the category of urea cycle disorders. This condition is characterized by a fundamental defect in the body’s ability to process and detoxify nitrogenous waste, leading to the accumulation of toxic compounds, most notably ammonia and argininosuccinic […]

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ARGININOSUCCINIC ACIDURIA

Introduction and Definition Argininosuccinic aciduria (ASA), also known as argininosuccinic acid lyase (ASL) deficiency, stands as one of the most prevalent inherited disorders affecting the urea cycle, a crucial metabolic pathway responsible for detoxifying ammonia in the body. This autosomal recessive condition is fundamentally characterized by the accumulation of **argininosuccinic acid** (ASA) within the systemic […]

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