Rapid Detection of Neonatal Argininosuccinate Lyase Deficiency by Serum Tandem Mass Spectrometry: A case report

Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle. The mortality rate of argininosuccinic aciduria is considerably high. Early diagnosis and treatment of argininosuccinic aciduria are life-saving and necessary to improve the long-term neurological and developmental outcome of these patients. Herein, we report a neonate with argininosuccinic aciduria who was immediately diagnosed with MS-MS and then successfully treated.