title: Disorders in protein glycosylation and potential therapy: tip of an iceberg?
abstract: Genetic defects in glycoprotein metabolism usually result in neurologic symptoms, but newly discovered defects in glycoprotein biosynthesis (the carbohydrate-deficient glycoprotein syndromes) also present as severe gastrointestinal disorders with hypoglycemia, protein-losing enteropathy, and hepatic pathology. Glycosylation disorders may be more widespread than previously thought and can be detected by using a simple, but underutilized, serum test. Some patients may benefit from promising dietary therapies now in clinical trials.
authors.affiliation: Burnham Institute, La Jolla, CA 92037, USA. hudson@burnhan-inst.org
authors.forename: H H
authors.initials: HH
authors.lastname: Freeze
mesh_terms: D002648:Child; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D006023:Glycoproteins / Q000097:blood / Q000235:genetics; D006031:Glycosylation; D006801:Humans; D008358:Mannose / Q000008:administration & dosage; D014168:Transferrin / Q000235:genetics / Q000378:metabolism
chemical_list: D006023:Glycoproteins; D014168:Transferrin; D008358:Mannose