Article
A familial case of FLAD1 protein deficiency associated with impaired adrenal steroidogenesis.
JCI insight - 8 Sept 2026
Averina Olga A, Kalinchenko Natalia Yu, Ioutsi Vitaly A, Pirogov Andrey V, Bogachev Alexander V, Permyakov Oleg A, Buev Vitaly S, Guseva Ekaterina A, Priymak Anastasia V, Bazhanova Olga A, Emelianova Mariia A, Grigoryeva Olga O, Baydakova Galina V, Abakumov Maxim A, Manskikh Vasily N, Dontsova Olga A, Sergiev Petr V, Tiulpakov Anatoly N
Abstract excerpt
The FLAD1 gene codes for flavin adenine dinucleotide (FAD) synthase. FAD is a cofactor for many redox enzymes involved in vital processes from respiration to signal transduction. In this work, we described a clinical case of 2 siblings carrying compound heterozygous mutations in the FLAD1 gene resulting in the substitutions A418V and R542* at the protein level. The patients demonstrate adrenal insufficiency,...
Read the complete abstract on PubMedTopics
- Animals
- Humans
- Adrenal Insufficiency
- Mice
- Female