Deficiency of alkaline ceramidase 3 with infancy-onset progressive leukoencephalopathy: a second case report

Acta Neurol Belg. 2021 Dec;121(6):1867-1870. doi: 10.1007/s13760-020-01474-4. Epub 2020 Aug 20.
No abstract available

Keywords: Alkaline ceramidase 3; Genetic leukoencephalopathy; Leukodystrophy; Whole exome sequencing.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Alkaline Ceramidase / deficiency*
  • Alkaline Ceramidase / genetics
  • Brain / diagnostic imaging*
  • Child, Preschool
  • Humans
  • Leukoencephalopathies / diagnostic imaging
  • Leukoencephalopathies / genetics*
  • Magnetic Resonance Spectroscopy
  • Male
  • Mutation
  • White Matter / diagnostic imaging*

Substances

  • ACER3 protein, human
  • Alkaline Ceramidase