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Successful pregnancy in severe methylmalonic acidaemia

M P Wasserstein1, S Gaddipati, S E Snyderman

  • 1Department of Human Genetics, Mount Sinai Medical Center, NY 10029, USA.

Journal of Inherited Metabolic Disease
|October 13, 1999
PubMed

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 mumol/L during the first trimester of pregnancy.

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