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The association of protein-losing enteropathy with cobalamin C defect.

C Ellaway, J Christodoulou, R Kamath, K Carpenter, B Wilcken
Journal of Inherited Metabolic Disease 1998 Februrary
We report a male infant with cobalamin C defect whose clinical course was complicated by diarrhoea suggestive of a protein-losing enteropathy, failure to thrive, macrocytosis and thrombocytopenia which resolved with hydroxocobalamin treatment. Protein-losing enteropathy has not previously been reported in association with cobalamin C defect and, if unrecognized, could cause considerable morbidity.

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