Argininosuccinic Aciduria, (Argininosuccinase Deficiency, Argininosuccinate Lyase Deficiency, ASL Deficiency) is an autosomal recessive disorder caused by a mutation in the ASL gene which codes for argininosuccinate lyase. It results in accumulation of citrulline, arginosuccinic acid, L-arginine, and L-glutamic acid in plasma as well as ammonia in blood. Infants are lethargic and unwilling to eat. They may develop seizures, coma, and failure to thrive as toxic ammonia accumulates.
References
Argininosuccinic Aciduria References
Erez A: Argininosuccinic aciduria: from a monogenic to a complex disorder. Genet Med. 2013 Apr;15(4):251-7. doi: 10.1038/gim.2012.166. Epub 2013 Jan 10.
Reid Sutton V, Pan Y, Davis EC, Craigen WJ: A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan;78(1):11-6.
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