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Journal article

Liver neoplasms in methylmalonic aciduria: An emerging complication.

  • Forny P Metabolic Medicine Department, Great Ormond Street Hospital, Institute of Child Health University College London, London, UK.
  • Hochuli M Department of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland.
  • Rahman Y Adult Inherited Metabolic Disease, Guy's & St Thomas' Hospital, London, UK.
  • Deheragoda M Institute of Liver Studies, King's College London, London, UK.
  • Weber A Department of Pathology and Molecular Pathology, University and University Hospital of Zurich, Zurich, Switzerland.
  • Baruteau J Metabolic Medicine Department, Great Ormond Street Hospital, Institute of Child Health University College London, London, UK.
  • Grunewald S Metabolic Medicine Department, Great Ormond Street Hospital, Institute of Child Health University College London, London, UK.
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  • 2019-07-02
Published in:
  • Journal of inherited metabolic disease. - 2019
hepatoblastoma
hepatocellular carcinoma
liver
methylmalonic aciduria
mitochondrial dysfunction
oncogenesis
oxidative stress
Acidosis, Lactic
Adult
Age of Onset
Amino Acid Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Child
Female
Humans
Infant
Infant, Newborn
Liver
Liver Neoplasms
Male
Metabolism, Inborn Errors
Methylmalonyl-CoA Mutase
Tomography, X-Ray Computed
Ultrasonography
Young Adult
English Methylmalonic aciduria (MMA) is an inherited metabolic disease caused by methylmalonyl-CoA mutase deficiency. Early-onset disease usually presents with a neonatal acute metabolic acidosis, rapidly causing lethargy, coma, and death if untreated. Late-onset patients have a better prognosis but develop common long-term complications, including neurological deterioration, chronic kidney disease, pancreatitis, optic neuropathy, and chronic liver disease. Of note, oncogenesis has been reported anecdotally in organic acidurias. Here, we present three novel and two previously published cases of MMA patients who developed malignant liver neoplasms. All five patients were affected by a severe, early-onset form of isolated MMA (4 mut0 , 1 cblB subtype). Different types of liver neoplasms, that is, hepatoblastoma and hepatocellular carcinoma, were diagnosed at ages ranging from infancy to adulthood. We discuss pathophysiological hypotheses involved in MMA-related oncogenesis such as mitochondrial dysfunction, impairment of tricarboxylic acid cycle, oxidative stress, and effects of oncometabolites. Based on the intriguing occurrence of liver abnormalities, including neoplasms, we recommend close biochemical and imaging monitoring of liver disease in routine follow-up of MMA patients.
Language
  • English
Open access status
green
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https://sonar.ch/global/documents/38196
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