title: Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay.
abstract: A 3 week old boy presented with abnormal thyroid function, and was treated with thyroxine. He developed multisystem disease including deafness and nephrotic syndrome, and died aged 3 months. Carbohydrate deficient glycoprotein syndrome (CDGS) was diagnosed post-mortem. CDGS should be considered in all infants with apparently unrelated multiple clinical or biochemical abnormalities.
authors.affiliation: Birmingham Children's Hospital, Department of Clinical Chemistry.
authors.forename: A C
authors.initials: AC
authors.lastname: Hutchesson
authors.forename: R G
authors.initials: RG
authors.lastname: Gray
authors.forename: D A
authors.initials: DA
authors.lastname: Spencer
authors.forename: G
authors.initials: G
authors.lastname: Keir
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D003638:Deafness / Q000209:etiology; D006023:Glycoproteins / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009404:Nephrotic Syndrome / Q000209:etiology; D013577:Syndrome; D013961:Thyroid Gland / Q000503:physiopathology*; D014168:Transferrin / Q000032:analysis
chemical_list: D006023:Glycoproteins; D014168:Transferrin