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Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome

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Abstract

Thrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways—atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, which was found to be caused by methylmalonic acidemia and homocystinuria, a rare vitamin B12 metabolism deficiency. To our knowledge, this is the first time that an adult-onset methylmalonic acidemia and homocystinuria presents as TMA preceding CNS involvement.

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Authors and Affiliations

  1. Nephrology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Curry Cabral, Rua da Beneficência 8, 1069-166, Lisbon, Portugal

    David Navarro, Ana Carina Ferreira, Fernanda Carvalho, Joaquim Calado & Fernando Nolasco

  2. Nephrology Department, Centro Hospitalar de Setúbal E.P.E., Hospital de São Bernardo, Setúbal, Portugal

    Ana Azevedo

  3. Metabolic Diseases Unit, Paediatric Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Dona Estefânia, Lisbon, Portugal

    Sílvia Sequeira

  4. Hematology Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

    Teresa Fidalgo

  5. Newborn Screening, Metabolism and Genetics Unit, Dr. Ricardo Jorge National Institute of Health, Lisbon, Portugal

    Laura Vilarinho

  6. Clinical Pathology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital São José, Lisbon, Portugal

    Maria Céu Santos

Authors
  1. David Navarro
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  2. Ana Azevedo
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  3. Sílvia Sequeira
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  4. Ana Carina Ferreira
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  5. Fernanda Carvalho
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  6. Teresa Fidalgo
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  7. Laura Vilarinho
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  8. Maria Céu Santos
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  9. Joaquim Calado
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  10. Fernando Nolasco
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Corresponding author

Correspondence to David Navarro.

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Conflict of interest

All the authors have declared no competing interest.

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This article does not contain any studies with human participants or animals performed by any of the authors.

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Written informed consent was obtained from the patient for publication of this case report and any accompanying images.

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Navarro, D., Azevedo, A., Sequeira, S. et al. Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. CEN Case Rep 7, 73–76 (2018). https://doi.org/10.1007/s13730-017-0298-6

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  • DOI: https://doi.org/10.1007/s13730-017-0298-6

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