Open AccessCoincidence of 3-methylglutaconic aciduria and duplication 5q – a case report and literature review
Author(s) -
Paweł Zapolnik,
Jolanta Sykut-Cegielska,
Antoni Pyrkosz
Publication year - 2020
Publication title -
acta biochimica polonica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.452
H-Index - 78
eISSN - 1734-154X
pISSN - 0001-527X
DOI - 10.18388/abp.2020_5355
Subject(s) - gene duplication , paresis , comparative genomic hybridization , medicine , myopathy , intellectual disability , pathological , pediatrics , genetics , pathology , biology , gene , surgery , genome
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.