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 journalArticlepeer-review

28 Scopus citations


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
Issue number7
StatePublished - 1999
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Successful pregnancy in severe methylmalonic acidaemia'. Together they form a unique fingerprint.

Cite this