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Amino Acid Metabolism

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

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 (PedsQLâ„¢) parent version, and (2) to assess the impact of LT on HRQoL by comparing LT and non-LT patient scores and free responses.

Wed, 12/21/2022 - 11:13