Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria

@article{Laube2003NephrocalcinosisAM,
  title={Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria},
  author={Guido F. Laube and James V. Leonard and William G. van't Hoff},
  journal={Pediatric Nephrology},
  year={2003},
  volume={18},
  pages={712-713}
}
3-Methylglutaconic aciduria is frequently found during urine organic acid analysis and is widely regarded as a marker of a mitochondrial disorder, the clinical features of which are very heterogeneous. We describe two siblings with 3-methylglutaconic aciduria in whom renal ultrasonography showed echogenic medullae consistent with nephrocalcinosis. One patient also developed medullary cysts. In both children renal function was normal and neither had any plasma or urinary evidence of tubulopathy… CONTINUE READING

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3 - Methylglutaconic aciduria : a new disorder of leucine metabolism

BH Robinson, WG Sherwood, M Lampty, JA Lowden
Pediatr Res • 1976