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Publications about genetic testing for metabolic disorders
  1. Confirmation of ACER3-Related Recessive Neurodegeneration

Confirmation of ACER3-Related Recessive Neurodegeneration

Dr. Peter Bauer, MD Dr. rer. nat. Claudia Cozma, MD Aida M. Bertoli-Avella, MD Christian Beetz Anju Shukla, MD Majid Alfadhel, MD Krishna Kumar Kandaswamy, PhD Omid Paknia, PhD Oliver Brandau, MD Prof. Arndt Rolfs, MD
October 16, 2018

Confirmation of ACER3-related recessive neurodegeneration, and preliminary evidence for feasibility of biochemistry-based ACER3 variant classification

These findings were presented at the ASHG 2018.


Background:

  • Ceramidases cleave ceramides into fatty acids and sphingosine
  • They are thereby important players in lipid metabolism
  • Knockout of the murine alkaline ceramidase 3 (Acer3) entails a late onset gait phenotype, Purkinje cell degeneration and dysregulation of several ceramides
  • A homozygous missense variant in the human homologue ACER3 has been associated with leukodystrophy and abnormal ceramide/sphingolipid profiles in two patients from a single family