Wolff J A, Strom C, Griswold W, Sweetman F, Kulovich S, Prodanos C, Nyhan W L
J Neurogenet. 1985 Feb;2(1):31-9. doi: 10.3109/01677068509100141.
A patient with methylmalonic acidemia was found to have a persistent hyperchloremic acidosis. Investigation documented the presence of a proximal renal tubular acidosis. Between 14 and 18 months of age the urinary pH was as high as 8.0 when the serum bicarbonate was 17 mEq/liter and the threshold for bicarbonate was at 16-17 mEq/liter. When restudied at 33 months of age, the threshold had risen to 20 mEq/liter, but this was still abnormal and supplemental treatment was required to keep the serum concentration of bicarbonate above 20 mEq/liter. It is postulated that organic acid metabolites which accumulate in this and related disorders may interfere with renal tubular function as has been shown for maleic acid in experimental animals.
一名甲基丙二酸血症患者被发现存在持续性高氯性酸中毒。检查证实存在近端肾小管酸中毒。在14至18个月大时，当血清碳酸氢盐为17 mEq/升且碳酸氢盐阈值为16 - 17 mEq/升时，尿液pH高达8.0。在33个月大时再次检查，阈值已升至20 mEq/升，但仍属异常，需要补充治疗以维持血清碳酸氢盐浓度高于20 mEq/升。据推测，在这种及相关疾病中积累的有机酸代谢产物可能会干扰肾小管功能，正如实验动物中马来酸所显示的那样。
