P013: Glutaric acidemia type 1 (GA-1) in Wisconsin Menominee Nation

Genetics in Medicine Open 2026 Open access

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Authors: Clairissa Kelso, Jessica Kopesky, Jerry Waukau, Joseph Awonohopay, Jennifer L. Geurts, Lisa Rein, Mei Wang Baker, Gunter H. Scharer, Ulrich Broeckel, Amy White
DOI: 10.1016/j.gimo.2026.103504
Cited by: 0

Abstract

The overall estimate of glutaric aciduria type 1 incidence is 1:106,900 (heterozygote frequency 0.610%) but varies across populations. From 2010-2015, two infants born to Menominee Nation families in Wisconsin with glutaric aciduria type 1 (GA-1) detected by newborn screening were identified as homozygous for GCDH c.395G>A (p.Arg132Gln) pathogenic variant. Both presented with metabolic episodes in the first week of life, one of whom experienced a GA-1-related stroke prior to detection via newborn screening.

Fields of Study & Subjects

Metabolism and Genetic Disorders Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103504–103504
Publication date
1 January 2026
Language
EN