Methylmalonic Acidemia Complicated by Homocystinuria Diseases: a Report of Three Cases

  • Ya-Nan Zhang
  • Ya-Lei Pi
  • Xue Yan
  • Yu-Qian Li
  • Zhan-Jiang Qi
  • Hui-Feng ZhangEmail author
Case Series


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.


Homocystinuria Left pulmonary vein ectopic drainage to coronary sinus Methylmalonic academia Noncompaction of the ventricular myocardium Pulmonary arterial hypertension 




This study was supported by the Self-financing Project of Provincial Science and Technology Plan in Hebei Province (no. 182777210) and Medical Science Research Project of Hebei Province in 2019 (no. 20190599). It was funded by Jin Lei Pediatric Endocrinology Growth Research Fund for Young Physicians (PEGRF, NO.PEGRF 201607001); the funds were used for analysis and interpretation of data. The Rapid Service Fee was funded by the authors.


All named authors meet the International Committee of Medical Journal Editors (ICMJE) criteria for authorship for this article, take responsibility for the integrity of the work as a whole, and have given their approval for this version to be published.


Ya-Nan Zhang, Ya-Lei Pi, Xue Yan, Yu-Qian Li, Zhan-Jiang Qi and Hui-Feng Zhang have nothing to disclose.

Compliance with Ethics Guidelines:

The study was approved by the Ethics Committee of the Second Hospital of Hebei Medical University. Written informed consent to participate and for publication was obtained from the parents of the patients.

Data Availability

The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.


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Copyright information

© Springer Healthcare Ltd., part of Springer Nature 2019

Authors and Affiliations

  • Ya-Nan Zhang
    • 1
  • Ya-Lei Pi
    • 1
  • Xue Yan
    • 1
  • Yu-Qian Li
    • 1
  • Zhan-Jiang Qi
    • 1
  • Hui-Feng Zhang
    • 1
    Email author
  1. 1.Department of PediatricsThe Second Hospital of Hebei Medical UniversityShijiazhuangChina

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