Coincidence of 3-methylglutaconic aciduria and duplication 5q – a case report and literature review

  • Paweł Zapolnik Students' Scientific Association of Clinical Genetics, Department of Clinical Genetics, Medical College, University of Rzeszów
  • Jolanta Sykut-Cegielska Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland
  • Antoni Pyrkosz Department of Clinical Genetics, Medical College, University of Rzeszów, Rzeszów, Poland


3-methylglutaconic aciduria includes a heterogeneous group of inborn errors of metabolism. The disease may have various clinical presentations, as can duplication 5q. We present the case of a 13-year-old boy with 3-methylglutaconic aciduria and duplication 5q. The main symptoms included myopathy, weakness, spastic paresis intensified mostly in the lower limbs, and intellectual disability. Additional studies showed elevated levels of 3-methylglutaconic acid in urine and ammonia in plasma. A duplication in region 5q23.3q31.1 was found in array-based comparative genomic hybridization. Next-generation sequencing did not reveal any pathological mutation. On the basis of the clinical picture and the results of biochemical and genetic tests 3-methylglutaconic aciduria type IV with duplication 5q was diagnosed.