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Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980-2020.


ABSTRACT: Glutaric aciduria type 1 (GA1) is a severe inherited neurometabolic disorder whose clinical outcome has improved after implementation of newborn screening (NBS) programs and prompt beginning of guideline-directed presymptomatic metabolic treatment. We report the outcome of our 40-year experience with the diagnosis and management of GA1 which has improved but remains suboptimal.

SUBMITTER: Mhanni A 

PROVIDER: S-EPMC7704458 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980-2020.

Mhanni A A   Aylward N N   Boy N N   Martin B B   Sharma A A   Rockman-Greenberg C C  

Molecular genetics and metabolism reports 20201125


Glutaric aciduria type 1 (GA1) is a severe inherited neurometabolic disorder whose clinical outcome has improved after implementation of newborn screening (NBS) programs and prompt beginning of guideline-directed presymptomatic metabolic treatment. We report the outcome of our 40-year experience with the diagnosis and management of GA1 which has improved but remains suboptimal. ...[more]

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