Article

Antioxidant therapy in a patient with Hyperprolinemia type I presented with mild neuromotor retardation and speech disturbance

2020-12-16

Abstract excerpt

<h4>Background: </h4> Hyperprolinemia type 1 (HPI) is an autosomal recessive inborn disease caused by mutations/deletions of PRODH gene, which is located on chromosome 22q11. The clinic spectrum involves mainly delayed psychomotor development, mild-to-severe mental retardation, neuropsychiatric symptoms and epilepsy. Although HPI can easily be diagnosed in patients undergoing metabolic screening tests, there is no...

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Literature Corpus work: 216200f6-9b1a-57c9-b88a-083cd0edbd17
DOI: 10.21203/rs.3.rs-128629/v1

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