Proximal renal tubular acidosis in methylmalonic acidemia.
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.
D000141:Acidosis, Renal Tubular / Q000150:complications* / Q000378:metabolism; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000378:metabolism; D001639:Bicarbonates / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007668:Kidney / Q000378:metabolism; D007687:Kidney Tubules, Proximal / Q000378:metabolism; D008314:Malonates / Q000097:blood*; D008764:Methylmalonic Acid / Q000097:blood*
D001639:Bicarbonates; D008314:Malonates; D008764:Methylmalonic Acid