Clarke A, Gardner-Medwin D, Richardson J, McGann A, Bonham J R, Carpenter K H, Bhattacharya S, Haggerty D, Fleetwood J A, Aynsley-Green A
Department of Human Genetics, University of Newcastle upon Tyne, Wales, England.
Brain Dev. 1990;12(1):119-24. doi: 10.1016/s0387-7604(12)80191-4.
The pathogenetic basis of the Rett syndrome (RS) is unknown: an X-linked dominant, male-lethal gene defect is thought likely. We present a girl with RS who has defects both of the urea cycle and of carbohydrate metabolism resulting in fasting hypoglycaemia, post-prandial hyperlactataemia and excess urinary orotic acid excretion after alanine load. Her sister has a similar clinical picture, but less marked metabolic anomalies. The mother of these sisters has abnormal urinary orotic acid excretion; she transmitted opposite ornithine carbomoyltransferase (OCT) alleles to the two girls. Another girl with RS has similar metabolic responses to fasting and to carbohydrate load. We conclude that RS may be an aetiologically homogeneous condition, but that it includes a variable pattern of metabolic anomalies, and that the gene defect is distinct from the OCT locus.
雷特综合征（RS）的发病机制尚不清楚：一种X连锁显性、男性致死性基因缺陷被认为很有可能。我们报告一名患有RS的女孩，她同时存在尿素循环和碳水化合物代谢缺陷，导致空腹低血糖、餐后高乳酸血症以及丙氨酸负荷后尿乳清酸排泄过多。她的姐姐有类似的临床表现，但代谢异常不太明显。这两个姐妹的母亲尿乳清酸排泄异常；她将相反的鸟氨酸氨甲酰基转移酶（OCT）等位基因传给了两个女孩。另一名患有RS的女孩对禁食和碳水化合物负荷有类似的代谢反应。我们得出结论，RS可能是一种病因学上的同质疾病，但它包括代谢异常的可变模式，并且基因缺陷与OCT基因座不同。
