The variability conundrum in neurometabolic degenerative diseases

Clara D M van Karnebeek; Phillip A Richmond; Frans van der Kloet; Wyeth W Wasserman; Marc Engelen; Stephan Kemp

doi:10.1016/j.ymgme.2020.11.002

The variability conundrum in neurometabolic degenerative diseases

Mol Genet Metab. 2020 Dec;131(4):367-369. doi: 10.1016/j.ymgme.2020.11.002. Epub 2020 Nov 6.

Authors

Clara D M van Karnebeek¹, Phillip A Richmond², Frans van der Kloet³, Wyeth W Wasserman², Marc Engelen⁴, Stephan Kemp⁵

Affiliations

¹ Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands; Department of Pediatrics (Metabolic Diseases), Radboud Centre for Mitochondrial Medicine, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands; Center for Molecular Medicine and Therapeutics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada. Electronic address: c.d.vankarnebeek@amsterdamumc.nl.
² Center for Molecular Medicine and Therapeutics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
³ Bioinformatics Laboratory, Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands; Biosystems Data Analysis, Swammerdam Institute for Life Sciences, University of Amsterdam, the Netherlands.
⁴ Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands; Department of Neurology, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands.
⁵ Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, Amsterdam University Medical Centers, University of Amsterdam, the Netherlands; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Amsterdam Gastroenterology & Metabolism, University of Amsterdam, Amsterdam, the Netherlands.

PMID: 33246824
DOI: 10.1016/j.ymgme.2020.11.002

No abstract available

Keywords: Geno-phenotype; Inborn error of metabolism; Multi-omics profiling; Newborn screening; Phenotypic modifiers; Prevention; Therapy; X-linked adrenoleukodystrophy.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Age of Onset
Humans
Infant, Newborn
Metabolic Diseases / complications
Metabolic Diseases / diagnosis
Metabolic Diseases / epidemiology
Metabolic Diseases / genetics*
Neonatal Screening*
Neurodegenerative Diseases / complications
Neurodegenerative Diseases / diagnosis
Neurodegenerative Diseases / epidemiology
Neurodegenerative Diseases / genetics*