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

Acta Biochim Pol. 2020 Jun 8;67(2):263-266. doi: 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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / blood
  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / urine
  • Adolescent
  • Ammonia / blood
  • Chromosomes, Human, Pair 5 / genetics
  • Comparative Genomic Hybridization
  • Cri-du-Chat Syndrome / complications*
  • Cri-du-Chat Syndrome / diagnosis*
  • Cri-du-Chat Syndrome / genetics
  • Glutarates / urine
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Metabolism, Inborn Errors / blood
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / urine
  • Rare Diseases / blood
  • Rare Diseases / complications
  • Rare Diseases / diagnosis
  • Rare Diseases / urine
  • Trisomy / diagnosis*
  • Trisomy / genetics

Substances

  • Glutarates
  • 3-methylglutaconic acid
  • Ammonia

Supplementary concepts

  • 3-Methylglutaconic Aciduria Type IV
  • Chromosome 5, trisomy 5q