Cobalamin C defect associated with hemolytic-uremic syndrome.
case_report · Level V
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Abstract
We describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure. Review of this and other described cases of the cobalamin C defect suggests that the hemolytic-uremic syndrome is part of the phenotypic spectrum of this inborn error of cobalamin metabolism.
Medical subject headings
- Hemolytic-Uremic Syndrome
- Homocystinuria
- Metabolism, Inborn Errors
- Methylmalonic Acid
- Vitamin B 12