Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.
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.
Cosson
M A
MA
Metabolic unit, Reference Center, Necker-Enfants Malades Hospital, University Paris Descartes, 149 rue de Sèvres, 75009 Paris, France.
Touati
G
G
Lacaille
F
F
Valayannnopoulos
V
V
Guyot
C
C
Guest
G
G
Verkarre
V
V
Chrétien
D
D
Rabier
D
D
Munnich
A
A
Benoist
J F
JF
de Keyzer
Y
Y
Niaudet
P
P
de Lonlay
P
P
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
D007166:Immunosuppressive Agents; D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase