Uma S M, Jyothy A, Reddy P P, Reddi O S
J Inherit Metab Dis. 1982;5(4):211-4. doi: 10.1007/BF02179143.
A systematic and selective screening programme to detect disorders of amino acid metabolism was undertaken to gain insight into the incidence and prevalence of such disorders in the southern part of India. This region was selected due to the high incidence of consanguineous marriages. No earlier data were available. We based our study on mentally retarded children. We have attempted dietary therapy in two patients with phenylketonuria; the biochemical response in both cases was satisfactory. The highlight of this survey was the detection of a new metabolic defect, threoninaemia.
为深入了解印度南部此类氨基酸代谢紊乱疾病的发病率和患病率，开展了一项系统且有针对性的筛查计划。选择该地区是因为近亲结婚的发生率很高。此前没有相关数据。我们的研究以智力发育迟缓儿童为基础。我们对两名苯丙酮尿症患者尝试了饮食疗法；两例患者的生化反应均令人满意。本次调查的亮点是发现了一种新的代谢缺陷——苏氨酸血症。
