Cobalamin C disease is a rare disorder of vitamn B12 metabolism that may present as the hemolytic uremic syndrome (HUS) in a neonate or young infant.


Inheritance: autosomal recessive


Clinical features:

(1) failure to thrive

(2) hemolytic anemia with schistocytes

(3) renal dysfunction and hypertension

(4) thrombocytopenia

(5) megaloblastic red blood cells

(6) methylmalonic aciduria and homocystinuria

(7) neurologic impairment including hypotonia


Cultured fibroblasts show:

(1) reduced cobalamin uptake

(2) defective synthesis of methyl-cobalamin and adenosyl-cobalamin

(3) deficient incorporation of formate and propionate


Patients respond to parenteral therapy with all of the following:

(1) hydroxycobalamin

(2) folinic acid

(3) carnitine


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