Abstract
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. The presence of nephrocalcinosis and medullary cysts in patients with 3-methylglutaconic aciduria adds to the heterogeneous clinical presentation of this group of disorders.
This is a preview of subscription content, log in via an institution to check access.
References
Robinson BH, Sherwood WG, Lampty M, Lowden JA (1976) 3-Methylglutaconic aciduria: a new disorder of leucine metabolism. Pediatr Res 10:371A
Gibson KM, Elpeleg ON, Jakobs C, Costeff H, Kelley RI (1993) Multiple syndromes of 3-methylglutaconic aciduria. Pediatr Neurol 9:120–123
Gibson KM, Sherwood WG, Hoffmann GF, Stumpf DA, Dianzani I, Schutgens RBH, Barth PG, Weismann U, Bachmann C, Schrynemackers-Pitance P, Verloes A, Narisawa K, Mino M, Ohya N, Kelley RI (1991) Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. J Pediatr 118:885–890
Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis P-A, Tonioli (1996) A novel X-linked gene, G4.5 is responsible for Barth syndrome. Nat Genet 12:385–389
Costeff H, Gadoth N, Apter N, Prialnic M, Savir H (1998) A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology 39:595–597
Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonne-Tamir B, Mohrenweiser H, Haider N, Stone EM, Sheffield VC (1997) Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with CTG repeat in the 3'untranslated region of the myotonic dystrophy protein kinase gene. Hum Mol Genet 6:563–569
Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O (2001) Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome or Costeff optic atrophy syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 69:1218–1224
Gibson KM, Nyhan WL, Sweetman L, Narisawa K, Lehnert W, Divry P, Robinson BH, Roth KS, Beemer FA, Van Sprang FJ, Duran M, Wadman SK, Cartigny B (1988) 3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconic-coenzyme A hydratase is normal. Eur J Pediatr 148:76–82
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Laube, G.F., Leonard, J.V. & van't Hoff, W.G. Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria. Pediatr Nephrol 18, 712–713 (2003). https://doi.org/10.1007/s00467-003-1151-z
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00467-003-1151-z