Coincidence of 3-methylglutaconic aciduria and duplication 5q – a case report and literature review
-
Published:2020-06-08
Issue:
Volume:
Page:
-
ISSN:1734-154X
-
Container-title:Acta Biochimica Polonica
-
language:
-
Short-container-title:Acta Biochim Pol
Author:
Zapolnik PawełORCID,
Sykut-Cegielska Jolanta,
Pyrkosz Antoni
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.
Publisher
Polskie Towarzystwo Biochemiczne (Polish Biochemical Society)
Subject
General Biochemistry, Genetics and Molecular Biology
Cited by
1 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献