We report two patients with methylmalonic acidemia (MMA) in whom renal biopsy demonstrated interstitial nephritis, bringing the total of such reported cases to four. In addition, hypertension, observed in one of our patients, has not been previously reported as the presentation of renal disease in MMA. The etiology of interstitial nephritis in MMA did not appear to be due to urate nephropathy. To date, 15 patients with MMA have been reported with renal complications, including chronic renal failure, making it imperative that children with MMA have their renal status evaluated.
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Rutledge, S.L., Geraghty, M., Mroczek, E. et al. Tubulointerstitial nephritis in methylmalonic acidemia. Pediatr Nephrol 7, 81–82 (1993). https://doi.org/10.1007/BF00861581
- Methylmalonic acidemia
- Interstitial nephritis