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Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence by C. Catsburg; S. Anderson; N. Upadhyaya; M. Bechter is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence about?

## 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 annotated wherever possible with allele frequencies from gnomAD. Ethnicity-specific prevalence was calculated using the Hardy–Weinberg equation and applied to generate country-specific carrier frequencies for 38 countries. Finally, documented consanguinity rates were applied to establish a birth prevalence for each country. ## Results 133 of 228 (58%) known causative alleles were annotated with ethn

Who reads Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence?

Author

C. Catsburg; S. Anderson; N. Upadhyaya; M. Bechter

Publisher

Springer Science and Business Media LLC

Published

2022

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)