RT Journal Article SR Electronic T1 A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 14 OP 19 DO 10.1136/jmg.38.1.14 VO 38 IS 1 A1 P de Lonlay A1 N Seta A1 S Barrot A1 B Chabrol A1 V Drouin A1 B M Gabriel A1 H Journel A1 M Kretz A1 J Laurent A1 M Le Merrer A1 A Leroy A1 D Pedespan A1 P Sarda A1 N Villeneuve A1 J Schmitz A1 E van Schaftingen A1 G Matthijs A1 J Jaeken A1 C Korner A1 A Munnich A1 J M Saudubray A1 V Cormier-Daire YR 2001 UL http://jmg.bmj.com/content/38/1/14.abstract AB INTRODUCTION Congenital disorders of glycosylation (CDG), or carbohydrate deficient glycoprotein syndromes, form a new group of multisystem disorders characterised by defective glycoprotein biosynthesis, ascribed to various biochemical mechanisms. METHODS We report the clinical, biological, and molecular analysis of 26 CDG I patients, including 20 CDG Ia, two CDG Ib, one CDG Ic, and three CDG Ix, detected by western blotting and isoelectric focusing of serum transferrin. RESULTS Based on the clinical features, CDG Ia could be split into two subtypes: a neurological form with psychomotor retardation, strabismus, cerebellar hypoplasia, and retinitis pigmentosa (n=11), and a multivisceral form with neurological and extraneurological manifestations including liver, cardiac, renal, or gastrointestinal involvement (n=9). Interestingly, dysmorphic features, inverted nipples, cerebellar hypoplasia, and abnormal subcutaneous fat distribution were not consistently observed in CDG Ia. By contrast, the two CDG Ib patients had severe liver disease, enteropathy, and hyperinsulinaemic hypoglycaemia but no neurological involvement. Finally, the CDG Ic patient and one of the CDG Ix patients had psychomotor retardation and seizures. The other CDG Ix patients had severe proximal tubulopathy, bilateral cataract, and white matter abnormalities (one patient), or multiorgan failure and multiple birth defects (one patient). CONCLUSIONS Owing to the remarkable clinical variability of CDG, this novel disease probably remains largely underdiagnosed. The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency.