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

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.

SUBMITTER: Navarro D 

PROVIDER: S-EPMC5886929 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature