Patient Video Link Catalog

Behind the Mystery: Arginase 1 Deficiency.

Urea cycle defects / Arginase deficiency

Patient/family experienceGeneral disease overview SymptomsDiagnostic testing Newborn screening Genetics/genetic testing BiochemistryPathophysiologyDiet/treatmentPrognosis

This is a story of Isaiah and Angela. Isaiah was identified by newborn screening. As mother and advocate, Angela, sought out information about the disease to better understand it and her role in helping her son. We hear about their journey and the challenges they faced. A metabolic disease expert provides a fairly detailed overview of the disease, the phenotype, the biochemistry and diagnostic testing, and the available therapy options at that time.

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