Arn P H, Williams C A, Zori R T, Driscoll D J, Rosenblatt D S
Department of Pediatrics, Nemours Children's Clinic, Jacksonville, Florida 32207, USA.
Am J Med Genet. 1998 May 18;77(3):198-200.
Deficiency of methylenetetrahydrofolate reductase (MTHFR) is associated with a variable phenotype that includes mental retardation, gait abnormalities, and seizures. Many of the same clinical findings are also seen in patients with Angelman syndrome. We report on a patient with MTHFR deficiency who was initially diagnosed as having Angelman syndrome. This case illustrates that MTHFR deficiency can mimic the phenotype of Angelman syndrome and that MTHFR deficiency should be excluded in patients with manifestations of Angelman syndrome whose molecular studies of chromosome 15 are normal.
亚甲基四氢叶酸还原酶（MTHFR）缺乏与多种可变表型相关，包括智力发育迟缓、步态异常和癫痫发作。安吉尔曼综合征患者也有许多相同的临床发现。我们报告了一名最初被诊断为患有安吉尔曼综合征的MTHFR缺乏患者。该病例表明，MTHFR缺乏可模仿安吉尔曼综合征的表型，对于15号染色体分子研究正常但有安吉尔曼综合征表现的患者，应排除MTHFR缺乏。
