PMM2-CDG and nephrotic syndrome: a case report.
CDG are a group of diseases altering the glycosylation process. Enzymes
involved have ubiquitous distribution with systemic involvement and high
phenotypic variability. We report the case of a girl with central
hypotonia, epilepsy and severe psychomotor delay diagnosed with
phosphomannomutase 2 deficiency (PMM2-CDG) after presenting with