Smeraldi E, Lucca A, Macciardi F, Bellodi L
Hum Genet. 1987 Jun;76(2):138-40. doi: 10.1007/BF00284910.
The hypothesis is examined that heterozygosity for amino acid disorders (AAD) is a genetic component of susceptibility for schizophrenic psychoses. To detect possible heterozygotes, urinary and blood amino acid levels were analyzed in a sample of subjects with a diagnosis of schizophrenia and in their biological parents and compared with those of a sample of healthy volunteers. The results showed increased blood and urinary levels of certain amino acid in those patients who have at least one parent with the same amino acid abnormality. This finding points to the possibility of heterozygosity for AAD in schizophrenic patients.
研究了氨基酸紊乱(AAD)杂合性是精神分裂症易感性遗传成分的假说。为了检测可能的杂合子,对诊断为精神分裂症的受试者及其亲生父母的样本进行了尿和血氨基酸水平分析,并与健康志愿者样本进行了比较。结果显示,至少有一位父母存在相同氨基酸异常的患者,其血液和尿液中某些氨基酸水平升高。这一发现表明精神分裂症患者存在AAD杂合性的可能性。