3-methylglutaconic aciduria disorders: the clinical spectrum increases

J Pediatr Hematol Oncol. 2006 Feb;28(2):62-3. doi: 10.1097/01.mph.0000199602.35010.89.
No abstract available

Publication types

  • Comment

MeSH terms

  • Acyltransferases
  • Cardiomyopathies / genetics
  • Consanguinity
  • Glutarates / urine*
  • Humans
  • Hydro-Lyases / deficiency
  • Hydro-Lyases / genetics
  • Male
  • Metabolism, Inborn Errors / classification*
  • Metabolism, Inborn Errors / enzymology
  • Metabolism, Inborn Errors / genetics
  • Metabolism, Inborn Errors / urine
  • Myelodysplastic Syndromes / genetics
  • Phenotype
  • Proteins / genetics
  • Transcription Factors / deficiency
  • Transcription Factors / genetics

Substances

  • Glutarates
  • OPA3 protein, human
  • Proteins
  • Transcription Factors
  • 3-methylglutaconic acid
  • Acyltransferases
  • TAFAZZIN protein, human
  • Hydro-Lyases
  • methylglutaconyl-CoA hydratase