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Article

Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence.

Orphanet journal of rare diseases - 2 Mar 2022

Catsburg C, Anderson S, Upadhyaya N, Bechter M

Abstract excerpt

BACKGROUND/OBJECTIVE: Arginase 1 Deficiency (ARG1-D) is a rare inherited metabolic disease with progressive, devastating neurological manifestations with early mortality and high unmet need. Information on prevalence is scarce and highly variable due to limited newborn screening (NBS) availability, variability of arginine levels in the first days of life, and high rates of misdiagnosis. US birth prevalence was...

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Identifiers

PMID: 35236361
DOI: 10.1186/s13023-022-02226-8
PMCID: PMC8889696

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