Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria

被引：29

作者：

Cosson, M. A. ^{[1
]}

Touati, G. ^{[1
]}

Lacaille, F.

Valayannnopoulos, V. ^{[1
]}

Guyot, C. ^{[4
,5
]}

Guest, G.

Verkarre, V. ^{[1
]}

Chretien, D. ^{[2
]}

Rabier, D. ^{[3
]}

Munnich, A. ^{[2
]}

Benoist, J. F. ^{[4
]}

de Keyzer, Y. ^{[2
]}

Niaudet, P.

de Lonlay, P. ^{[1
,2
]}

机构：

[1] Univ Paris 05, Necker Enfants Malad Hosp, Reference Ctr, Metab unit, F-75009 Paris, France

[2] Univ Paris 05, Necker Enfants Malad Hosp, INSERM, U781, F-75015 Paris, France

[3] Univ Paris 05, Necker Enfants Malad Hosp, Biochem Unit, F-75015 Paris, France

[4] Robert Debre Hosp, Biochem Unit, F-7509 Paris, France

[5] Mere Enfant Hosp, Nephrol GC, F-44093 Nantes, France

来源：

MOLECULAR GENETICS AND METABOLISM | 2008年 / 95卷 / 1-2期

关键词：

methylmalonic aciduria; liver hepatoblastoma; respiratory chain deficiency; kidney transplantation;

D O I：

10.1016/j.ymgme.2008.06.007

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (C) 2008 Elsevier Inc. All rights reserved.

引用

页码：107 / 109

页数：3

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