Waggoner D J, Ueda K, Mantia C, Dowton S B
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Am J Med Genet. 1998 Oct 12;79(5):373-5.
Methylmalonic acidemia can be secondary to a deficiency of methylmalonyl CoA mutase or to a defect of cobalamin metabolism that is classified by complementation group. We report on a new patient with cblF complementation group that is associated with an elevation of both methylmalonic acid and homocysteine, and her outcome in response to routine therapy and a dietary restriction.
甲基丙二酸血症可能继发于甲基丙二酰辅酶A变位酶缺乏或钴胺素代谢缺陷，后者按互补组分类。我们报告了一名患有cblF互补组的新患者，该互补组与甲基丙二酸和同型半胱氨酸水平升高有关，并报告了她对常规治疗和饮食限制的反应结果。
