CEN Case Reports

, Volume 7, Issue 1, pp 73–76 | Cite as

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

  • David Navarro
  • Ana Azevedo
  • Sílvia Sequeira
  • Ana Carina Ferreira
  • Fernanda Carvalho
  • Teresa Fidalgo
  • Laura Vilarinho
  • Maria Céu Santos
  • Joaquim Calado
  • Fernando Nolasco
Case Report


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.


Methylmalonic aciduria and homocystinuria Thrombotic microangiopathy Vitamin B12 metabolism 


Compliance with ethical standards

Conflict of interest

All the authors have declared no competing interest.

Ethical approval

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

Informed consent

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


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Copyright information

© Japanese Society of Nephrology 2018

Authors and Affiliations

  • David Navarro
    • 1
  • Ana Azevedo
    • 2
  • Sílvia Sequeira
    • 3
  • Ana Carina Ferreira
    • 1
  • Fernanda Carvalho
    • 1
  • Teresa Fidalgo
    • 4
  • Laura Vilarinho
    • 5
  • Maria Céu Santos
    • 6
  • Joaquim Calado
    • 1
  • Fernando Nolasco
    • 1
  1. 1.Nephrology DepartmentCentro Hospitalar de Lisboa Central E.P.E., Hospital Curry CabralLisbonPortugal
  2. 2.Nephrology DepartmentCentro Hospitalar de Setúbal E.P.E., Hospital de São BernardoSetúbalPortugal
  3. 3.Metabolic Diseases Unit, Paediatric DepartmentCentro Hospitalar de Lisboa Central E.P.E., Hospital Dona EstefâniaLisbonPortugal
  4. 4.Hematology DepartmentCentro Hospitalar e Universitário de CoimbraCoimbraPortugal
  5. 5.Newborn Screening, Metabolism and Genetics UnitDr. Ricardo Jorge National Institute of HealthLisbonPortugal
  6. 6.Clinical Pathology DepartmentCentro Hospitalar de Lisboa Central E.P.E., Hospital São JoséLisbonPortugal

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