title: The association of protein-losing enteropathy with cobalamin C defect.
abstract: 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.
authors.affiliation: Department of Biochemical Genetics, Royal Alexandra Hospital for Children, Westmead, New South Wales, Australia.
authors.forename: C
authors.initials: C
authors.lastname: Ellaway
authors.forename: J
authors.initials: J
authors.lastname: Christodoulou
authors.forename: R
authors.initials: R
authors.lastname: Kamath
authors.forename: K
authors.initials: K
authors.lastname: Carpenter
authors.forename: B
authors.initials: B
authors.lastname: Wilcken
mesh_terms: D006801:Humans; D007223:Infant; D008297:Male; D011504:Protein-Losing Enteropathies / Q000150:complications* / Q000378:metabolism / Q000503:physiopathology; D014806:Vitamin B 12 Deficiency / Q000150:complications* / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy