Argininosuccinate lyase deficiency

Argininosuccinate lyase deficiency, also known as argininosuccinic aciduria, is an autosomal recessive urea cycle disorder caused by pathogenic variants in the *ASL* gene This enzymatic defect impairs the conversion of argininosuccinate into arginine and fumarate, disrupting nitrogen detoxification and leading to systemic accumulations of argininosuccinic acid, citrulline, and neurotoxic ammonia Manifesting across pediatric and adult populations, the clinical spectrum ranges from catastrophic ne...

Argininosuccinate lyase deficiency, also known as argininosuccinic aciduria, is an autosomal recessive urea cycle disorder caused by pathogenic variants in the *ASL* gene This enzymatic defect impairs the conversion of argininosuccinate into arginine and fumarate, disrupting nitrogen detoxification and leading to systemic accumulations of argininosuccinic acid, citrulline, and neurotoxic ammonia

Manifesting across pediatric and adult populations, the clinical spectrum ranges from catastrophic neonatal hyperammonemic encephalopathy to late-onset disease marked by episodic hyperammonemia, developmental delay, chronic liver dysfunction or cirrhosis, neurocognitive impairment, trichorrhexis nodosa, and systemic hypertension