Successful pregnancy in severe methylmalonic acidaemia

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

Research output: Contribution to journalArticle

22 Citations (Scopus)

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
Externally publishedYes

Fingerprint

Methylmalonic Acid
Inborn Errors Metabolism
Pregnancy
Ketosis
Metabolic Bone Diseases
Chronic Pancreatitis
First Pregnancy Trimester
Vitamin B 12
Chronic Kidney Failure
Late Onset Disorders
Methylmalonic acidemia
Therapeutics

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

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

Successful pregnancy in severe methylmalonic acidaemia. / Wasserstein, Melissa P.; Gaddipati, S.; Snyderman, S. E.; Eddleman, K.; Desnick, R. J.; Sansaricq, C.

In: Journal of Inherited Metabolic Disease, Vol. 22, No. 7, 1999, p. 788-794.

Research output: Contribution to journalArticle

Wasserstein, MP, Gaddipati, S, Snyderman, SE, Eddleman, K, Desnick, RJ & Sansaricq, C 1999, 'Successful pregnancy in severe methylmalonic acidaemia', Journal of Inherited Metabolic Disease, vol. 22, no. 7, pp. 788-794. https://doi.org/10.1023/A:1005597722237
Wasserstein, Melissa P. ; Gaddipati, S. ; Snyderman, S. E. ; Eddleman, K. ; Desnick, R. J. ; Sansaricq, C. / Successful pregnancy in severe methylmalonic acidaemia. In: Journal of Inherited Metabolic Disease. 1999 ; Vol. 22, No. 7. pp. 788-794.
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