Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation

Clin Genet. 2020 Jul;98(1):102-103. doi: 10.1111/cge.13763. Epub 2020 May 5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Female
  • Humans
  • Infant
  • Membrane Transport Proteins / genetics*
  • Metabolism, Inborn Errors / genetics*
  • Mitochondrial Precursor Protein Import Complex Proteins
  • Mutation / genetics*
  • Spasms, Infantile / genetics*
  • Vigabatrin / genetics*

Substances

  • Membrane Transport Proteins
  • Mitochondrial Precursor Protein Import Complex Proteins
  • TIMM50 protein, human
  • Vigabatrin

Supplementary concepts

  • 3-Methylglutaconic Aciduria