Successful pregnancy in severe methylmalonic acidaemia

M. P. Wasserstein, S. Gaddipati, S. E. Snyderman, K. Eddleman, R. J. Desnick, C. Sansaricq

Research output: Contribution to journalArticle

23 Scopus citations

Abstract

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 of the disease and had plasma methylmalonic acid concentrations of 1900 μmol/L during the first trimester of pregnancy.

Original languageEnglish (US)
Pages (from-to)788-794
Number of pages7
JournalJournal of Inherited Metabolic Disease
Volume22
Issue number7
DOIs
StatePublished - 1999

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Wasserstein, M. P., Gaddipati, S., Snyderman, S. E., Eddleman, K., Desnick, R. J., & Sansaricq, C. (1999). Successful pregnancy in severe methylmalonic acidaemia. Journal of Inherited Metabolic Disease, 22(7), 788-794. https://doi.org/10.1023/A:1005597722237