Cobalamin disorder CblC presenting with hemolytic uremic syndrome and pulmonary hypertension

摘要

Combined homocystinuria and methylmalonic aciduria cbl-C type is an inborn error of metabolism of vitamin B12 that leads to increased levels of homocysteine and methylmalonic acid. The spectrum of clinical manifestations and disease severity is broad. Atypical hemolytic uremic syndrome (aHUS) and pulmonary hypertension can be the first manifestations of the disease.