Long‐term outcome is postulated to be different in isolated methylmalonic aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl‐CoA mutase deficiency (mut), but case definition was previously difficult.

中文翻译：

---

描绘孤立性甲基丙二酸尿症的临床谱：cblA 和 mut

与甲基丙二酰辅酶A变位酶缺乏症（mut ）相比， MMAA基因突变（cblA型）引起的孤立性甲基丙二酸尿症的长期结果被假定为不同，但以前很难确定病例。