J Inherit Metab Dis

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

Year 1998
Ellaway C. Christodoulou J. Kamath R. Carpenter K. Wilcken B.
Department of Biochemical Genetics, Royal Alexandra Hospital for Children, Westmead, New South Wales, Australia.
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.