Abstract
A boy who was diagnosed with methylmalonic aciduria (MMA) at the age of 10 days developed persistent hepatomegaly and raised transaminases from the age of 4 years. He was subsequently diagnosed with Leigh syndrome and required a kidney transplantation for end-stage renal failure. A massive hepatoblastoma led to his death by the age of 11 years. Methylmalonyl-CoA mutase activity was undetectable on both cultured skin fibroblasts and kidney biopsy and multiple respiratory chain deficiency was demonstrated in the kidney. Mitochondrial dysfunction and/or post-transplant immunosuppressive therapy should be considered as a possible cause of liver cancer in this patient.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Cells, Cultured
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Child
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Electron Transport
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Fatal Outcome
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Fibroblasts / enzymology
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Follow-Up Studies
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Hepatoblastoma / enzymology*
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Hepatoblastoma / etiology
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Hepatoblastoma / genetics
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Hepatoblastoma / therapy
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Humans
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Immunosuppressive Agents / adverse effects
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Kidney / enzymology
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Kidney / metabolism
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Kidney Transplantation / adverse effects
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Lipid Metabolism, Inborn Errors / complications*
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Lipid Metabolism, Inborn Errors / enzymology*
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Lipid Metabolism, Inborn Errors / genetics
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Lipid Metabolism, Inborn Errors / therapy
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Male
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Methylmalonic Acid / metabolism
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Methylmalonyl-CoA Mutase / genetics
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Methylmalonyl-CoA Mutase / metabolism*
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Mutation
Substances
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Immunosuppressive Agents
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Methylmalonic Acid
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Methylmalonyl-CoA Mutase