title: [Carbohydrate-deficient blood glycoprotein syndrome].
abstract: Carbohydrate-deficient glycoprotein syndrome (CDGS) is a newly delineated group of inherited multisystemic disorders associated with abnormal glycosylation of a number of serum glycoproteins. Several types have been described on the basis of clinical presentation and biochemical changes of the glycosylation of serum transferrin and attributed to different enzymatic defects; their clinical presentations are fully different and a clinical heterogeneity is observed within a same type of CDGS. Patients with CDGS type la usually present with neurologic (hypotonia, strabismus and cerebellar hypoplasia) and cutaneous (inverted nipples, abnormal distribution of adipose tissue) abnormalities, together with multivisceral involvement (digestive, hepatic, cardiac, renal). However, neurologic and cutaneous symptoms may be absent, so that CDGS must be looked for in case of unexplained organ failure such as isolated liver insufficiency, cardiomyopathy, pericarditis, tubulopathy, nephrotic syndrome, vascular accident or retinitis pigmentosa. Patients with CDGS type Ib present with liver disease, enteropathy and hypoglycemia without neurologic involvement. These patients are successfully treated with oral mannose administration emphasizing the importance of making the diagnosis. Patients with CDGS type Ic present with mild psychomotor retardation and seizures. Patients with CDGS type II have psychomotor retardation association with severe gastrointestinal disorder, dysmorphic features and abnormal electroretinogram. Other types (III, IV) are less clearly defined and the clinical presentation includes convulsive encephalopathy. Biological abnormalities such as mild hepatic cytolysis, hematologic and hormonal abnormalities are consistently observed in CDGS type I, as well as renal hyperechogeneity, leading one to look for this syndrome when they are associated. Until now, only four enzymatic deficiencies have been identified (types Ia, Ib, Ic, II).
authors.affiliation: Département de pédiatrie, hôpital Necker-Enfants-Malades, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: de Lonlay
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: S
authors.initials: S
authors.lastname: Vuillaumier-Barrot
authors.forename: M
authors.initials: M
authors.lastname: Cuer
authors.forename: G
authors.initials: G
authors.lastname: Durand
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: N
authors.initials: N
authors.lastname: Seta
mesh_terms: D001798:Blood Proteins / Q000378:metabolism; D018981:Congenital Disorders of Glycosylation / Q000145:classification* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D003937:Diagnosis, Differential; D006023:Glycoproteins / Q000097:blood / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D014168:Transferrin / Q000378:metabolism
chemical_list: D001798:Blood Proteins; D006023:Glycoproteins; D014168:Transferrin