... of metabolism (IEM) reported among patients with ASD is 2–5%. The clinical presentation of congenital disorders of glycosylation (CDG) may be in the form of psychiatric disorder only. Case Study: Case 1: a 5-year-old female patient was admitted for investigation of ASD. She had a dysmorphic facial appearance...

...., 2013; Ganetzky et al., 2015; Quelhas et al., 2016; Yuste-Checa., 2017; Ng et al., 2019]. This paper reports two novel children with DPAGT1-CDG and reviews the literature. Congenital disorders of glycosylation DPAGT1 gene Dysmorphic facial features Epilepsy Muscle weakness...

...Ümmühan Öncül; Engin Kose; Fatma Tuba Eminoğlu ALG1-congenital disorder of glycosylation (ALG1-CDG) is an autosomal recessive multisystem disease. We here present a patient with a mild phenotype of ALG1-CDG. A 15-month-old female was referred with hypotonia, failure to thrive, and developmental...

...Antonio Gennaro Nicotera; Giulia Spoto; Francesco Calì; Giusi Romeo; Antonino Musumeci; Mirella Vinci; Agata Fiumara; Rita Barone; Gabriella Di Rosa; Sebastiano Antonino Musumeci Congenital disorders of glycosylation (CDG) are a group of rare genetic diseases caused by the deficiency of enzymes...