Successful pregnancy in severe methylmalonic acidaemia

  title={Successful pregnancy in severe methylmalonic acidaemia},
  author={Melissa P Wasserstein and Sreedhar Gaddipati and Selma E. Snyderman and Keith A. Eddleman and Robert J Desnick and Claude Sansaricq},
  journal={Journal of Inherited Metabolic Disease},
Methylmalonic acidaemia is an inborn error of metabolism characterized by recurrent episodes of life-threatening ketoacidosis. With improved and intensive treatment, these patients are living into adulthood, but many experience late-onset disease complications such as chronic renal failure, chronic pancreatitis and osteopenia. We report the successful delivery of a healthy baby to a 20-year-old woman with vitamin B12-unresponsive methylmalonic acidaemia who has these late-onset manifestations… CONTINUE READING


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