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

Paweł Zapolnik; Jolanta Sykut-Cegielska; Antoni Pyrkosz

doi:10.18388/abp.2020_5355

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 https://orcid.org/0000-0001-9935-472X
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

DOI: https://doi.org/10.18388/abp.2020_5355

Abstract

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.

5355
html

Published

2020-06-08

Issue

Vol. 67 No. 2 (2020)

Section

Articles

Acta Biochimica Polonica is an OpenAccess quarterly and publishes four issues a year. All contents are distributed under the Creative Commons Attribution-ShareAlike 4.0 International (CC BY 4.0) license. Everybody may use the content following terms: Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.