First Case of Argininosuccinic Aciduria in Japan : Clinical Observations and Treatment

摘要: Argininosuccinic aciduria is the most common disorder of urea cycle in European countries and U.S.A., but no case has ever been reported Japan. It caused by deficiency enzyme L-argininosuccinic acid lyase (EC 4. 3. 2. 1., ASA lyse) with aresulting accumulation large amounts argininosuccinic (ASA) body fluids. divided into three clinical types1: neonatal, subacute late-onset form accompanied mental retardation, hepatomegaly friable hair, known as trichorrhexis nodosa. Genetic heterogeneity various manifestations suggestion2’3 different biochemical forms aciduria. We report here first Japan follow-up study under treatment 1-arginine supplemented protein restricted diet for two a half years.