Successful pregnancy in severe methylmalonic acidaemia

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

doi:10.1023/A:1005597722237

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 journal › Article › peer-review

28 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 language	English (US)
Pages (from-to)	788-794
Number of pages	7
Journal	Journal of Inherited Metabolic Disease
Volume	22
Issue number	7
DOIs	https://doi.org/10.1023/A:1005597722237
State	Published - 1999
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Successful pregnancy in severe methylmalonic acidaemia",

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.",

author = "Wasserstein, {M. P.} and S. Gaddipati and Snyderman, {S. E.} and K. Eddleman and Desnick, {R. J.} and C. Sansaricq",

note = "Funding Information: This work was supported in part by a grant to the Mount Sinai General Clinical Research Center (5 M01 RR00071) from the National Center for Research Resources. Dr Wasserstein is the recipient of a Young Investigator Award from the Mount Sinai Child Health Research Center (5 P30 HD 28822). We thank Dr Yuxiang Chen, Alejandro Aguila, and Mohsin Faruqi for their expert technical assistance. Copyright: Copyright 2007 Elsevier B.V., All rights reserved.",

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T1 - Successful pregnancy in severe methylmalonic acidaemia

AU - Wasserstein, M. P.

AU - Gaddipati, S.

AU - Snyderman, S. E.

AU - Eddleman, K.

AU - Desnick, R. J.

AU - Sansaricq, C.

N1 - Funding Information: This work was supported in part by a grant to the Mount Sinai General Clinical Research Center (5 M01 RR00071) from the National Center for Research Resources. Dr Wasserstein is the recipient of a Young Investigator Award from the Mount Sinai Child Health Research Center (5 P30 HD 28822). We thank Dr Yuxiang Chen, Alejandro Aguila, and Mohsin Faruqi for their expert technical assistance. Copyright: Copyright 2007 Elsevier B.V., All rights reserved.

PY - 1999

Y1 - 1999

N2 - 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.

AB - 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.

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Successful pregnancy in severe methylmalonic acidaemia

Abstract

ASJC Scopus subject areas

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