A Novel Mutation in the Glutaryl-CoA Dehydrogenase Gene (GCDH) in an Iranian Patient Affected with Glutaric Acidemia Type 1

Overview

Journal Clin Case Rep

Date 2021 Sep 13

PMID 34512980

Citations 1

Authors

Sima Rayat

Saeid Morovvati

Affiliations

Soon will be listed here.

Abstract

Our findings revealed the mutation c.536T>C (p. Leu179Pro) in GCDH gene although has not been reported so far, but the in-silico analysis and clinical symptoms of the patient indicated that the mutation is pathogenic full stop. Also, it can be diagnosed and prevented in families affected by the disease.

Citing Articles

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

Rayat S, Morovvati S Clin Case Rep. 2021; 9(9):e04749.

PMID: 34512980 PMC: 8423083. DOI: 10.1002/ccr3.4749.

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