Article
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
Human mutation - 1 Jul 2007
Trevisson Eva, Salviati Leonardo, Baldoin Maria Cristina, Toldo Irene, Casarin Alberto, Sacconi Sabrina, Cesaro Luca, Basso Giuseppe, Burlina Alberto B
Abstract excerpt
Argininosuccinic aciduria (ASAuria) is an inborn error of metabolism caused by mutations in the argininosuccinate lyase (ASL) gene, which leads to the accumulation of argininosuccinic acid (ASA) in body fluids and severe hyperammonemia. A severe neonatal form and a milder late-onset variant are described. We report a novel ASL pseudogene located in the centromeric region of chromosome 7, 14 novel mutations in the...
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