title: Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.
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.
authors.affiliation: Metabolic unit, Reference Center, Necker-Enfants Malades Hospital, University Paris Descartes, 149 rue de Sèvres, 75009 Paris, France.
authors.forename: M A
authors.initials: MA
authors.lastname: Cosson
authors.forename: G
authors.initials: G
authors.lastname: Touati
authors.forename: F
authors.initials: F
authors.lastname: Lacaille
authors.forename: V
authors.initials: V
authors.lastname: Valayannnopoulos
authors.forename: C
authors.initials: C
authors.lastname: Guyot
authors.forename: G
authors.initials: G
authors.lastname: Guest
authors.forename: V
authors.initials: V
authors.lastname: Verkarre
authors.forename: D
authors.initials: D
authors.lastname: Chrétien
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J F
authors.initials: JF
authors.lastname: Benoist
authors.forename: Y
authors.initials: Y
authors.lastname: de Keyzer
authors.forename: P
authors.initials: P
authors.lastname: Niaudet
authors.forename: P
authors.initials: P
authors.lastname: de Lonlay
mesh_terms: D002478:Cells, Cultured; D002648:Child; D004579:Electron Transport; D017809:Fatal Outcome; D005347:Fibroblasts / Q000201:enzymology; D005500:Follow-Up Studies; D018197:Hepatoblastoma / Q000201:enzymology* / Q000209:etiology / Q000235:genetics / Q000628:therapy; D006801:Humans; D007166:Immunosuppressive Agents / Q000009:adverse effects; D007668:Kidney / Q000201:enzymology / Q000378:metabolism; D016030:Kidney Transplantation / Q000009:adverse effects; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000201:enzymology* / Q000235:genetics / Q000628:therapy; D008297:Male; D008764:Methylmalonic Acid / Q000378:metabolism; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics / Q000378:metabolism*; D009154:Mutation
chemical_list: D007166:Immunosuppressive Agents; D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase