ß-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients

► Largest cohort of ß-ureidopropionase deficient patients studied so far. ► Patients presented mainly with neurological abnormalities. ► Analysis of UPB1 showed 7 novel mutations. ► Detailed analysis of purified wild-type and mutant ß-ureidopropionase. ► Mutations affected catalysis, global folding and structural integrity.