A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

Abstract 3‐Hydroxy‐3‐methylglutaryl‐coenzyme A lyase deficiency (HMGCLD) is a rare autosomal recessively inherited metabolic disorder. Patients suffer from avoidable neurologically devastating metabolic decompensations and thus would benefit from newborn screening (NBS). The diagnosis is currently m...

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Bibliographic Details
Main Authors: Jan Václavík, Lucie Mádrová, Štěpán Kouřil, Julie de Sousa, Radana Brumarová, Hana Janečková, Jaroslava Jáčová, David Friedecký, Mária Knapková, Leo A. J. Kluijtmans, Sarah C. Grünert, Frédéric M. Vaz, Nils Janzen, Ronald J. A. Wanders, Ron A. Wevers, Tomáš Adam
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:JIMD Reports
Subjects:
3‐hydroxy‐3‐methylglutaryl‐coenzyme A lyase deficiency
acylcarnitines
biomarkers
HMG‐CoA lyase
metabolomics
newborn screening
Online Access:https://doi.org/10.1002/jmd2.12118

Internet

https://doi.org/10.1002/jmd2.12118

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