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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Specialty: Hematology Oncology, Clinical Laboratory
