A Novel Variant of ASL Gene Mutation in a Lebanese Neonate with Severe Argininosuccinic Aciduria Phenotype

Abstract

Argininosuccinic aciduria is a urea cycle defect associated with deficiency in argininosuccinate lyase enzyme, leading to a severe hyperammonemic encephalopathy, epilepsy and hepatopathy. Only very few known mutations have been linked with a severe phenotype. Here we report the case of a Lebanese newborn child with a very early manifestation of argininosuccinic aciduria, his genetic studies confirmed the presence of a mutation in the ASL gene (c.697A>C p. (Thr233Pro) at the homozygous state. To our knowledge, this is the first time this variant has been reported in literature.