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 1900μmol/L during the first trimester of pregnancy.
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Wasserstein, M.P., Gaddipati, S., Snyderman, S.E. et al. Successful pregnancy in severe methylmalonic acidaemia. J Inherit Metab Dis 22, 788–794 (1999). https://doi.org/10.1023/A:1005597722237
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DOI: https://doi.org/10.1023/A:1005597722237