Source:http://linkedlifedata.com/resource/umls/id/C0596122
CSP: autosomal recessive aminoacidopathy characterized by urinary excretion of argininosuccinic acid, due to a deficiency of argininosuccinate lyase, with hyperammonemia, argininosuccinicacidemia, and citrullinemia; clinical findings include mental retardation, seizures, ataxia, hepatomegaly, and friable hair.