September 10, 2025

[Newborn screening, clinical characteristics and genetic variant analysis of Glutaric acidemia type I in Henan Province].

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The incidence of glutaric acidemia type I in newborns is 1 in 101,828, which suggests relatively rare cases in Henan Province.
Among 814,625 screened neonates, eight cases of GA1 were diagnosed, highlighting the importance of newborn screening.
Whole exome sequencing detected 12 missense variants in the GCDH gene, enriching the mutational spectrum associated with GA1.
The prognosis varied, with 6 children showing good development and 1 case resulting in death, indicating the need for ongoing monitoring.

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Retrospective analysis reveals the incidence and genetic characteristics of glutaric acidemia type I, highlighting clinical outcomes.

Zhu et al. (2025) studied this question.

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