Fibroblast Fatty-Acid Oxidation Flux Assays Stratify Risk in Newborns with Presumptive-Positive Results on Screening for Very-Long Chain Acyl-CoA Dehydrogenase Deficiency

• Main Authors: Simon E. Olpin (Author), Shirley Clark (Author), Jane Dalley (Author), Brage S. Andresen (Author), Joanne Croft (Author), Camilla A. Scott (Author), Aneal Khan (Author), Richard J. Kirk (Author), Rebecca Sparkes (Author), Marisa Chard (Author), Alicia Chan (Author), Emma Glamuzina (Author), Jean Bastin (Author), Nigel J. Manning (Author), Rodney J. Pollitt (Author)
• Format: Book
• Published: MDPI AG, 2017-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Very-long chain acyl-CoA dehydrogenase deficiency (VLCADD) is a clinically heterogeneous disorder with three major phenotypes: severe neonatal/infantile, milder childhood and late onset myopathic. VLCADD is genetically heterogeneous with numerous pathogenic mutations and variants of uncertain signif...