Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.

doi:10.1002/jimd.70210

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Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.

Journal of inherited metabolic disease - 1 Jul 2026

Scharre Svenja, Hess Annette L, Gleich Florian, Garbade Sven F, Feyh Patrik, Karall Daniela, Baghdasaryan Anna, Huemer Martina, Hennermann Julia B, Hahn Andreas, Lindner Martin, Gramer Gwendolyn, Luecke Thomas, Kleinelanghorst Nils, Haeberle Johannes, Lotz-Havla Amelie S, Hoffmann Georg F, Okun Juergen G, Muetze Ulrike, Kölker Stefan

Abstract excerpt

Arginase 1 deficiency (ARG1-D) is an ultra-rare urea cycle disorder characterized by progressive spastic paraplegia, developmental delay, epilepsy, and episodic hyperammonemia. Evidence on prevalence and clinical presentation is scarce. Therefore, epidemiology and the phenotypical spectrum were assessed in Germany, Austria, and Switzerland (DACH region). We conducted a questionnaire-based, cross-sectional study...

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PMID: 42252709
DOI: 10.1002/jimd.70210
PMCID: PMC13243979

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ARG1

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