Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation.
Argininosuccinic aciduria (ASA-uria) is a rare inborn error of the urea cycle, in which there is massive excretion of argininosuccinic acid (ASA) in the urine together with elevated concentrations of ASA in the plasma and the CSF. The characteristic symptoms are either those of overwhelming metabolic disease in the newborn period, or variable psychomotor retardation. The present patient, the first Finnish one to be reported, was a 49-year-old woman. She was hospitalized at the age of 26 with a diagnosis schizophrenia and mental retardation. Her clinical symptoms consisted of ataxia, disturbance of coordination, clumsiness, intention treMor and a positive Romberg's sign. The laboratory findings were consistent with the mild, late-onset type of ASA-uria.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000378:metabolism; D001120:Arginine / Q000031:analogs & derivatives*; D001125:Argininosuccinic Acid / Q000097:blood* / Q000652:urine*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D008875:Middle Aged; D009069:Movement Disorders / Q000209:etiology; D012559:Schizophrenia / Q000209:etiology*
D001125:Argininosuccinic Acid; D001120:Arginine