title: Neurological aspects of human glycosylation disorders.
abstract: This review presents principles of glycosylation, describes the relevant glycosylation pathways and their related disorders, and highlights some of the neurological aspects and issues that continue to challenge researchers. More than 100 rare human genetic disorders that result from deficiencies in the different glycosylation pathways are known today. Most of these disorders impact the central and/or peripheral nervous systems. Patients typically have developmental delays/intellectual disabilities, hypotonia, seizures, neuropathy, and metabolic abnormalities in multiple organ systems. Among these disorders there is great clinical diversity because all cell types differentially glycosylate proteins and lipids. The patients have hundreds of misglycosylated products, which afflict a myriad of processes, including cell signaling, cell-cell interaction, and cell migration. This vast complexity in glycan composition and function, along with the limited availability of analytic tools, has impeded the identification of key glycosylated molecules that cause pathologies. To date, few critical target proteins have been pinpointed.
authors.affiliation: Sanford-Burnham Medical Research Institute, La Jolla, California 92037; email: hudson@sanfordburnham.org , bobbyng@sanfordburnham.org.
authors.forename: Hudson H
authors.initials: HH
authors.lastname: Freeze
authors.forename: Erik A
authors.initials: EA
authors.lastname: Eklund
authors.forename: Bobby G
authors.initials: BG
authors.lastname: Ng
authors.forename: Marc C
authors.initials: MC
authors.lastname: Patterson
mesh_terms: D000818:Animals; D001321:Autistic Disorder / Q000150:complications / Q000378:metabolism*; D015415:Biomarkers / Q000378:metabolism; D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000378:metabolism*; D004827:Epilepsy / Q000150:complications / Q000378:metabolism*; D005128:Eye Diseases / Q000150:complications / Q000378:metabolism*; D006025:Glycosaminoglycans / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000378:metabolism*; D011134:Polysaccharides / Q000378:metabolism*
chemical_list: D015415:Biomarkers; D006025:Glycosaminoglycans; D011134:Polysaccharides
keywords: CDG; congenital disorders; epilepsy; glycans; glycoprotein; seizures
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