Journal of Genetic Counseling

, Volume 25, Issue 5, pp 936–944 | Cite as

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia

  • Kimberly Splinter
  • Anna-Kaisa Niemi
  • Rachel Cox
  • Julia Platt
  • Monisha Shah
  • Gregory M. Enns
  • Mureo Kasahara
  • Jonathan A. Bernstein
Original Research


An understanding of health related quality of life (HRQoL) in children and families affected by methylmalonic acidemia (MMA) is important in planning counseling and therapeutic intervention. Liver transplantation (LT) is used as a treatment for MMA; however, its risks and benefits continue to be investigated. The purpose of this study was twofold: (1) to measure HRQoL in children and families affected by MMA using the Pediatric Quality of Life Inventory (PedsQL™) parent version, and (2) to assess the impact of LT on HRQoL by comparing LT and non-LT patient scores and free responses. Parents/caregivers reported lower scores on the majority of the PedsQL™ scales as compared to samples of healthy children, children with solid organ transplants for indications other than MMA, and families affected by chronic conditions. Scores for children with MMA were lowest in school and social functioning and scores for families were lowest in worry and activity impairment. There were no significant differences in LT and non-LT patient scores on the PedsQL™ scales. Our results document the negative impact of MMA on HRQoL.


Methylmalonic acidemia Health-related quality of life Inborn error of metabolism Liver transplantation 



The authors sincerely thank the OAA for help in recruiting families. The authors also thank the Mapi Research Trust (Lyon, France; email:; website: for permission to use the PedsQL™ Inventory (Copyright 1998 JW Varni, Ph.D. All rights reserved).

Compliance with Ethical Standards

Conflict of Interest

Kimberly Splinter, Anna-Kaisa Niemi, Rachel Cox, Julia Platt, Monisha Shah, Gregory M. Enns, Mureo Kasahara, and Jonathan A. Bernstein declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

Supplementary material

10897_2015_9921_MOESM1_ESM.doc (152 kb)
ESM 1 (DOC 152 kb)


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Copyright information

© National Society of Genetic Counselors, Inc. 2015

Authors and Affiliations

  • Kimberly Splinter
    • 1
    • 2
  • Anna-Kaisa Niemi
    • 3
    • 4
  • Rachel Cox
    • 3
  • Julia Platt
    • 3
  • Monisha Shah
    • 3
  • Gregory M. Enns
    • 3
  • Mureo Kasahara
    • 5
  • Jonathan A. Bernstein
    • 3
  1. 1.Department of GeneticsStanford University School of MedicineStanfordUSA
  2. 2.Department of Biomedical InformaticsHarvard Medical SchoolBostonUSA
  3. 3.Department of Pediatrics, Division of Medical Genetics, Stanford Children’s HospitalStanford UniversityStanfordUSA
  4. 4.Department of Pediatrics, Division of Neonatal and Developmental MedicineStanford UniversityStanfordUSA
  5. 5.Transplantation CenterNational Center for Child Health and DevelopmentTokyoJapan

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