title: Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities.
abstract: We report siblings with a variant of carbohydrate-deficient glycoprotein syndrome, type 1 (CDGS1), characterized by normal phosphomannomutase and phosphomannose isomerase activities, severe thrombocytopenia, and respiratory compromise. Each infant died after a course of intensive care, suggesting that infants with CDGS1 and normal phosphomannomutase and phosphomannose isomerase activities may have a more severe CDGS1 phenotype.
authors.affiliation: Department of Pediatrics, University of Iowa College of Medicine, Iowa City 52242-1083, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Acarregui
authors.forename: T N
authors.initials: TN
authors.lastname: George
authors.forename: W J
authors.initials: WJ
authors.lastname: Rhead
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D008297:Male; D008359:Mannose-6-Phosphate Isomerase / Q000097:blood*; D017875:Phosphotransferases (Phosphomutases) / Q000097:blood*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics
chemical_list: D008359:Mannose-6-Phosphate Isomerase; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase