Introduction:AGC1 deficiency is a metabolic defect in the malate–aspartate shuttle characterized by a severe neurodevelopmental phenotype with increased serum lactate levels.
Clinical features: The patients reported, presented with severe developmental delay, epileptic encephalopathy, muscular hypotonia and feeding difficulties.
Inheritance:AGC1 deficiency is inherited in a autosomal recessive manner.
Prevalence: The prevalence of AGC1 deficiency is not known.
Molecular Characteristics:A defect in the SLC25A12gene the is caused by variety of mutations including homozygous missense mutations, homozygous nonsense mutation, different compound heterozygous mutations and frameshift deletions.
Management:Treatment is symptomatic and multidisciplinary.
SLC25A12