Guízar Vázquez J, Sánchez Aguilar G, Velázquez A, Fragoso R, Rostenberg I, Alejandre I
Bol Med Hosp Infant Mex. 1980 Nov-Dec;37(6):1237-44.
We describe a female child from a consanguineous marriage (uncle-niece) with hypermethioninemia and hypermethioninuria without homocystinuria. She had several signs and symptoms previously undescribed in this pathology as growth retardation, generalized hypotonia, digestive disturbances, white skin, hypochromia of iris, thin, sparse and blond scalp hair. The pedigree suggests an autosomal recessive inheritance pattern.
我们描述了一名来自近亲婚姻（叔侄联姻）的女童，患有高甲硫氨酸血症和高甲硫氨酸尿症，但无高同型半胱氨酸尿症。她有一些此前在该病症中未被描述过的体征和症状，如生长发育迟缓、全身肌张力减退、消化功能紊乱、皮肤白皙、虹膜色素减退、头皮毛发稀疏且呈淡黄色。家系图谱提示为常染色体隐性遗传模式。
