P-193 Glutaric aciduria type 1 in a 23 year old mother while newborn screening revealed carnitine deficiency in her baby 2014
Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder caused by deficiency of glutaryl-coenzyme A dehydrogenase (GCDH). GCDH gene mutations lead to defective enzyme activity and during a catabolic state like infection, fever or dehydration illness clinically manifests. Most patients have their first symptoms...