Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion

Mol Genet Metab. 2011 Nov;104(3):410-3. doi: 10.1016/j.ymgme.2011.07.021. Epub 2011 Jul 26.


We describe two siblings with 3-methylglutaconic aciduria type I with phenotypic heterogeneity. The index case was a 14-year-old female with learning disability, attention deficit-hyperactivity and early onset subclinical leukoencephalopathy. Her 9-year-old brother had severe expressive speech delay and delay in speech sound development with normal cognitive functions. The diagnosis was confirmed by a demonstration of 3-methylglutaconyl-CoA hydratase enzyme deficiency in the cultured skin fibroblasts and homozygous deletion of exons 1-3 within the AUH gene.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Base Sequence
  • Child
  • Enoyl-CoA Hydratase / genetics*
  • Female
  • Glutarates / metabolism*
  • Humans
  • Hydro-Lyases / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Metabolism, Inborn Errors / pathology*
  • Molecular Sequence Data
  • Phenotype*
  • RNA-Binding Proteins / genetics*
  • Sequence Analysis, DNA
  • Siblings


  • Glutarates
  • RNA-Binding Proteins
  • 3-methylglutaconic acid
  • Hydro-Lyases
  • AUH protein, human
  • Enoyl-CoA Hydratase
  • methylglutaconyl-CoA hydratase