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a Département de
Pédiatrie, Hôpital des Enfants-Malades, Paris, France, b Service de Biochimie, Hôpital Bichat, France, c Département de
Pédiatrie, Marseille, d Département de Génétique, Rouen, e Service de Néonatologie,
Avignon, f Département de
Génétique, Vannes, France, g Service
de Pédiatrie, Colmar, France, h Département de Génétique, Hôpital
Necker-Enfants- Malades, 149 rue de Sèvres, 75743 Paris Cedex
15, France, i Service de Pédiatrie,
Compiègne, France, j Service de
Pédiatrie, Bordeaux, France, k Département de Génétique, Montpellier,
France, l Service de Neurologie,
Hôpital Saint-Vincent de Paul, Paris, France, m University Hospital Gasthuisberg,
Leuven, Belgium, n Georg-August University, Göttingen,
Germany
Correspondence to: Dr Cormier-Daire, cormier{at}necker.fr
Revised version received 3 August 2000;
Accepted for publication 13 October
2000
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.
METHODSWe 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.
RESULTSBased 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).
CONCLUSIONSOwing 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.
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