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

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

Molecular Genetics and Metabolism Reports (Dec 2020)

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

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

Affiliations

A. Mhanni: Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada
N. Aylward: Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada
N. Boy: Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Germany
B. Martin: Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada; Department of Family Medicine, University of Manitoba, Winnipeg, Canada
A. Sharma: Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada
C. Rockman-Greenberg: Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada; Corresponding author.

Journal volume & issue: Vol. 25
p. 100666

Abstract

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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.

Published in Molecular Genetics and Metabolism Reports

ISSN: 2214-4269 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Medicine (General); Science: Biology (General)
Website: http://www.journals.elsevier.com/molecular-genetics-and-metabolism-reports/

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