Related Experiment Video
Updated: Apr 17, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
Hepatoblastoma in a patient with methylmalonic aciduria
Randall Chan1, Leo Mascarenhas, Richard G Boles
1Division of Pediatric Hematology/Oncology, Los Angeles County+University of Southern California Medical Center, Los Angeles, California; Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California.
Abstract:
Childhood malignant tumors and their treatment are not well described in the natural history of methylmalonic aciduria (MMA). Here we present a case of hepatoblastoma occurring in the native liver of a 19-month-old male with MMA. His tumor was unresectable at diagnosis and he received neoadjuvant chemotherapy with cisplatin, 5-fluorouracil and vincristine. He developed metabolic acidosis and hyperglycemia during chemotherapy. In addition, he developed anemia, thrombocytopenia and febrile neutropenia. He underwent a combined liver-kidney transplant for local control of his tumor and to treat MMA. He remains in remission more than five years after his transplant. In addition, his transplant has cured his MMA and he is able to tolerate a regular diet without developing metabolic crises.
Related Concept Videos
Inborn Errors of Metabolism
Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test

