A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1

Abstract

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Exploring genotype–phenotype correlations in glutaric aciduria type 1

“…A systematic literature search was performed by the authors and conducted in PubMed for publications between January 2000 up to May 2022, that report GCDH variants in GA1 patients. For this search the following MeSH terms were used: “glutaric aciduria type 1,” “glutaric acidemia type 1,” “glutaric aciduria type I,” “glutaric acidemia type I,” “glutaryl‐CoA dehydrogenase deficiency,” and “GCDH” 30–107 . References from selected articles from before the year 2000 with complete description of GA1 patients were also included.…”