Open AccessA novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1
Author(s) -
Rayat Sima,
Morovvati Saeid
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4749
Subject(s) - medicine , mutation , gene , in silico , genetics , gene mutation , pediatrics , bioinformatics , biology
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.