Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Boy, Nikolas; Mühlhausen, Chris; M. Maier, Esther; Ballhausen, Diana; R. Baumgartner, Matthias; Beblo, Skadi; Burgard, Peter; A. Chapman, Kimberly; Dobbelaere, Dries; Heringer‐Seifert, Jana; Fleissner, Sandra; Grohmann‐Held, Karina; Hahn, Gabriele; Harting, Inga; F. Hoffmann, Georg; Jochum, Frank; Karall, Daniela; Konstantopoulous, Vassiliki; Krawinkel, Michael; Lindner, Martin; M. Charlotte Märtner, E.; Nuoffer, Jean‐Marc; G. Okun, Jürgen; Plecko, Barbara; Posset, Roland; Sahm, Katja; Scholl‐Bürgi, Sabine; Thimm, Eva; Walter, Magdalena; Williams, Monique; vom Dahl, Stephan; Ziagaki, Athanasia; Zschocke, Johannes; Kölker, Stefan

doi:10.1002/jimd.12566

Public

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Published in Journal of Inherited Metabolic Disease • Oct 11, 2022

Authors:

Nikolas Boy

Chris Mühlhausen

Esther M. Maier

Abstract

Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3-hydrox...

Subject

Newborn screening

Glutaric acid

Medicine

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