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Congenital disorders of glycosylation (CDG) are newly described inborn errors of metabolism involving glycan moiety synthesis. CDG Ib is caused by a deficiency of cellular phosphomannose isomerase (EC 220.127.116.11)1–4 resulting from the presence of mutations in the corresponding gene, MPI,5,6 on chromosome 15 (mutation database: http://www.med.kuleuven.ac.be/cdg/). CDG Ib differs clinically from the other CDGs. It has no neurological symptoms, presenting mainly with hepatic and gastrointestinal symptoms2,3,7,8 and is thought to be underdiagnosed. Fewer than 20 CDG Ib patients have been reported. Importantly, CDG Ib is treatable by oral mannose supplementation, in contrast with other CDGs.3,9
The syndrome of intractable diarrhoea of infancy was first defined in 1968 by Avery et al.10 In 1986, a syndrome of intractable diarrhoea associated with severe protein losing enteropathy, hypoglycaemia, and congenital hepatic fibrosis, was described in four infants from the Saguenay-Lac St-Jean (SLSJ) region of north eastern Quebec, Canada. All died before 21 months of age.11
In retrospect, their symptoms resembled those of CDG Ib. In this article we describe the testing of parents of these children and report on a new French family with CDG Ib. The French-Canadian parents were all heterozygous for the same deleterious MPI mutation as found in the new French patient, proving that the SLSJ patients in fact suffered from CDG 1b.
PATIENTS AND METHODS
The clinical presentation of the SLSJ infants was previously described by Pelletier et al.11
The new French patient with CDG Ib, whose family originates from Nantes (Brittany, France) and whose parents have no known consanguinity, presented with diarrhoea related to protein losing enteropathy with oedema, hypoalbuminaemia, hyponatraemia, and recurrent hypoglycaemia. No liver cytolysis was noted. Hypocholesterolaemia was found and clotting tests showed thrombocytosis. Coagulation factor XI was decreased, resulting in an …