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Article

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.

Journal of inherited metabolic disease - 1 Mar 2026

Rudebeck Mattias, Braverman Nancy, Chang Richard, Enns Gregory M, Ghosh Arunabha, Gorce Magali, Karall Daniela, Sharma Reena, Shelkowitz Emily, Zori Roberto, McNutt Markey

Abstract excerpt

Arginase 1 deficiency (ARG1-D) is an ultra-rare inherited metabolic disorder of the urea cycle, caused by partial or complete loss of arginase 1 function, characterised by hyperargininaemia and a distinct, progressive neurological phenotype. The clinical development programme of pegzilarginase, a recombinant human ARG1 enzyme therapy, provides an opportunity to study the largest ARG1-D cohort to date. The...

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Identifiers

PMID: 41651652
DOI: 10.1002/jimd.70156
PMCID: PMC12880898

Genes

ARG1

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