Families

What is AGC1 deficiency?
AGC1 deficiency is a metabolic defect caused by a change in the SLC25A12gene. Patient present with a variety of symptoms like developmental delay, epileptic encephalopathy, muscle weakness and feeding difficulties.

How many people are affected?
AGC1 deficiency is a rare disease. To date, only fourteen individuals from twelve families have been reported.

What causes AGC1 deficiency?
AGC1 deficiency is a genetic disorder caused by a genetic change (mutation) in both copies of the SLC25A12gene. These changes are each inherited from each parent.

How to diagnose AGC1 deficiency?
Genetic testing can lead to a diagnosis.