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

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Arginase 1 Deficiency (ARG1-D) is more common than previously thought, with a global birth prevalence of 2.8 cases per million. This study highlights the need for increased awareness and improved screening for this rare metabolic disorder.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Epidemiology

Background:

  • Arginase 1 Deficiency (ARG1-D) is a rare, severe inherited metabolic disease.
  • Limited newborn screening and diagnostic challenges lead to scarce prevalence data.
  • Previous US birth prevalence estimates were 1.1 cases per million live births.

Purpose of the Study:

  • To estimate the global birth prevalence of Arginase 1 Deficiency (ARG1-D).
  • To utilize genetic population databases for a more accurate prevalence assessment.
  • To compare genetic database-derived prevalence with existing newborn screening data.

Main Methods:

  • Systematic search of MEDLINE and EMBASE for ARG1-D variants.
  • Annotation of variants with allele frequencies from gnomAD.
  • Calculation of ethnicity-specific prevalence using Hardy-Weinberg equation and consanguinity rates for 38 countries.

Main Results:

  • Global birth prevalence of ARG1-D estimated at 2.8 cases per million live births.
  • Country-specific estimates ranged from 0.92 to 17.5 cases per million.
  • Population prevalence estimated at 1.4 cases per million people (1/726,000).

Conclusions:

  • Genetic database analysis suggests ARG1-D is more frequent than previously indicated by newborn screening.
  • Higher confidence in estimates for North America and Europe due to data availability.
  • Emphasizes the need for increased disease education, testing, and standardized screening for ARG1-D.