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

ABSTRACT:

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 recently estimated via indirect methods at 1.1 cases per million live births. Due to the autosomal recessive nature of ARG1-D we hypothesize that the global prevalence may be more accurately estimated using genetic population databases.

Methods

MEDLINE and EMBASE were systematically searched for previously reported disease variants. Disease variants in ARG1-D were annot

SUBMITTER: Catsburg C 

PROVIDER: S-EPMC8889696 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature