Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

Abstract Very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) is a recessive disorder of fatty acid beta‐oxidation with variable phenotype. Patients may present during the neonatal period with lethal multi‐organ failure or during adulthood with a myopathic phenotype. VLCADD is included in the...

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Bibliographic Details
Main Authors: David Olsson, Michela Barbaro, Charlotte Haglind, Maria Halldin, Svetlana Lajic, Sara Tucci, Rolf H. Zetterström, Anna Nordenström
Format: Article
Language:English
Published: Wiley 2022-03-01
Series:JIMD Reports
Subjects:
clinical outcome
newborn screening
Sweden
very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD)
Online Access:https://doi.org/10.1002/jmd2.12268

Internet

https://doi.org/10.1002/jmd2.12268

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