Haan E A, Rogers J G, Lewis G P, Rowe P B
J Inherit Metab Dis. 1985;8(2):53-7. doi: 10.1007/BF01801662.
We report the case of a boy with 5,10-methylenetetrahydrofolate reductase deficiency. The clinical features consisted of severe mental retardation, spasticity and seizures remaining static to 7 years of age followed by a phase of rapid deterioration and death at 7 1/2 years of age. The main biochemical findings were homocystinaemia, homocystinuria, a normal methionine level in plasma and cerebrospinal fluid, an increased excretion of methionine in urine and a very low level of folate in the cerebrospinal fluid. The activity of 5,10-methylenetetrahydrofolate reductase was greatly reduced in the patient's lymphocytes and liver.
我们报告了一例患有5,10-亚甲基四氢叶酸还原酶缺乏症的男孩病例。临床特征包括严重智力发育迟缓、痉挛和癫痫发作，至7岁时病情稳定，随后在7岁半时迅速恶化并死亡。主要生化检查结果为高同型半胱氨酸血症、同型胱氨酸尿症、血浆和脑脊液中甲硫氨酸水平正常、尿中甲硫氨酸排泄增加以及脑脊液中叶酸水平极低。患者淋巴细胞和肝脏中5,10-亚甲基四氢叶酸还原酶的活性大幅降低。
