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The association of protein-losing enteropathy with cobalamin C defect
C Ellaway1, J Christodoulou, R Kamath
1Department of Biochemical Genetics, Royal Alexandra Hospital for Children, Westmead, New South Wales, Australia.
Insights
Cobalamin C defect in an infant caused protein-losing enteropathy, failure to thrive, and low platelets. Treatment with hydroxocobalamin resolved these severe symptoms, highlighting a new complication of this metabolic disorder.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Cobalamin C defect is a rare inherited metabolic disorder affecting vitamin B12 metabolism.
- It typically presents with neurological and hematological abnormalities.
Observation:
- A male infant diagnosed with cobalamin C defect exhibited severe diarrhea consistent with protein-losing enteropathy.
- The infant also presented with failure to thrive, macrocytosis, and thrombocytopenia.
Findings:
- The clinical manifestations, including protein-losing enteropathy, resolved completely following treatment with hydroxocobalamin.
- This marks the first reported instance of protein-losing enteropathy associated with cobalamin C defect.
Implications:
- Protein-losing enteropathy may be an underrecognized complication of cobalamin C defect.
- Early diagnosis and treatment with hydroxocobalamin are crucial to prevent significant morbidity in affected infants.
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.