The association of protein-losing enteropathy with cobalamin C defect.
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.
Ellaway
C
C
Department of Biochemical Genetics, Royal Alexandra Hospital for Children, Westmead, New South Wales, Australia.
Christodoulou
J
J
Kamath
R
R
Carpenter
K
K
Wilcken
B
B
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