The concept of cardiorenal syndrome with pulmonary hypertension and TMA in MMACHC deficiency is supported by hemolytic anemia in an infant with cblC defect who died from cor pulmonale [49] and by increased creatinine and LDH levels in another infant who died from pulmonary hypertension and MMACHC [50]. The gene discussed is CBLC; the disease is cor pulmonale.