由于甲基丙二酰辅酶A变位酶缺乏所致的甲基丙二酸/β-羟基正戊酸尿症

Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.

作者信息

Goodman S I, McCabe E R, Fennessey P V, Miles B S, Mace J W, Jellum E

出版信息

Clin Chim Acta. 1978 Aug 1;87(3):441-9. doi: 10.1016/0009-8981(78)90190-0.

Abstract

A patient with methylmalonic and beta-hydroxy-n-valeric aciduria, apparently due to deficiency of methylmalonyl-CoA mutase, is described. The excretion of beta-hydroxy-n-valerate did not parallel that of beta-hydroxypropionate and methylmalonate but was observed, together with beta-keto-n-valerate, only during ketosis. beta-Hydroxy-n-valerate excretion thus correlates primarily not with the pool size of propionyl-CoA but with that of acetyl-CoA, and may occur during ketosis in any disorder causing accumulation of propionyl-CoA.

摘要

本文描述了一名患有甲基丙二酸尿症和β-羟基正戊酸尿症的患者，其病因显然是甲基丙二酰辅酶A变位酶缺乏。β-羟基正戊酸的排泄与β-羟基丙酸和甲基丙二酸的排泄并不平行，而是仅在酮症期间与β-酮基正戊酸一起被观察到。因此，β-羟基正戊酸的排泄主要不是与丙酰辅酶A的池大小相关，而是与乙酰辅酶A的池大小相关，并且可能在任何导致丙酰辅酶A积累的疾病的酮症期间发生。