Methylmalonic Acidemia Complicated by Homocystinuria Diseases: a Report of Three Cases. Zhang Ya-Nan,Pi Ya-Lei,Yan Xue,Li Yu-Qian,Qi Zhan-Jiang,Zhang Hui-Feng Advances in therapy This study aims to improve our understanding of methylmalonic acidemia (MMA) complicated by homocystinuria disease by analyzing the clinical characteristics, treatment response and prognosis of three patients. Hyperhomocysteinemia and developmental retardation were present in all patients, epilepsy was present in one patient, and hemolytic uremic syndrome was present in one patient. The conditions of two patients were complicated by pulmonary arterial hypertension, one patient by left pulmonary vein ectopic drainage to the coronary sinus and the other by noncompaction of the ventricular myocardium. The two MMA patients with the complication of severe pulmonary arterial hypertension died because of late diagnosis and irregular treatment of MMA. Echocardiography is necessary for patients with combined MMA and homocystinuria, and these patients are susceptible to cardiovascular disease. When a patient with combined MMA and homocystinuria has the complication of severe pulmonary arterial hypertension, the prognosis is poor. 10.1007/s12325-019-01149-4

Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia. Bakshi Nasir A,Al-Anzi Talal,Mohamed Said Y,Rahbeeni Zuhair,AlSayed Moeen,Al-Owain Mohammed,Sulaiman Raashda A American journal of medical genetics. Part A Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia, thrombocytopenia, and pancytopenia. However, there are very limited data on the development of hemophagocytosis or myelodysplasia in these patients. We report three patients with isolated MUT related MMA who presented with severe refractory pancytopenia during acute illness. Their bone marrow examination revealed a wide spectrum of pathology varying from bone marrow hypoplasia, hemophagocytosis to myelodysplasia with ring sideroblasts. We discuss their management and outcome. This report emphasizes the need for bone marrow examination in these patients with refractory or unexplained severe cytopenia, to confirm bone marrow pathology, and to rule out other diseases with similar clinical presentation for a better clinical outcome. 10.1002/ajmg.a.38599