Identification of the potential pathogenicity of a VUS in the ASL gene associated with argininosuccinic aciduria in an Iranian family.

Abstract excerpt

BACKGROUND: Argininosuccinic aciduria (ASA) is an autosomal recessive disorder resulting from a lack of argininosuccinate lyase (ASL). ASL facilitates the fourth phase of the urea cycle, when argininosuccinic acid breaks down to provide arginine and fumarate. ASL (NM_000048.3) is the sole gene identified with mutations linked to ASA. METHODS: This study involved a clinical and genetic assessment of an Iranian...

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