Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia

Clin Immunol. 2016 Apr:165:1-3. doi: 10.1016/j.clim.2016.02.008. Epub 2016 Feb 23.
No abstract available

Keywords: 3-Methylglutaconic acid; CLPB; Cataract; Epilepsy; Microcephaly; Severe congenital neutropenia.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Endopeptidase Clp / genetics*
  • Female
  • Humans
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / genetics*
  • Muscle Hypertonia / etiology
  • Mutation*
  • Nervous System Diseases / etiology*
  • Neutropenia / etiology*

Substances

  • Endopeptidase Clp
  • CLPB protein, human

Supplementary concepts

  • 3-Methylglutaconic Aciduria