Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia

S. C. Van Calcar; C. O. Harding; S. R. Davidson; L. A. Barness; J. A. Wolff

doi:10.1002/ajmg.1320440523

Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia

S. C. Van Calcar, C. O. Harding, S. R. Davidson, L. A. Barness, J. A. Wolff

Research output: Contribution to journal › Article › peer-review

50 Scopus citations

Abstract

We report on 2 women with organic acidemias, one with classical maple syrup urine disease and another with mild propionic acidemia in which protein restricted diets and carnitine supplementation were successfully employed to manage pregnancies. Healthy infants were delivered without maternal metabolic decompensation.

Original language	English (US)
Pages (from-to)	641-646
Number of pages	6
Journal	American Journal of Medical Genetics
Volume	44
Issue number	5
DOIs	https://doi.org/10.1002/ajmg.1320440523
State	Published - 1992
Externally published	Yes

Keywords

carnitine supplementation
maple syrup urine disease
organic acidemia

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.1320440523

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title = "Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia",

abstract = "We report on 2 women with organic acidemias, one with classical maple syrup urine disease and another with mild propionic acidemia in which protein restricted diets and carnitine supplementation were successfully employed to manage pregnancies. Healthy infants were delivered without maternal metabolic decompensation.",

keywords = "carnitine supplementation, maple syrup urine disease, organic acidemia",

author = "{Van Calcar}, {S. C.} and Harding, {C. O.} and Davidson, {S. R.} and Barness, {L. A.} and Wolff, {J. A.}",

year = "1992",

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AU - Harding, C. O.

AU - Davidson, S. R.

AU - Barness, L. A.

AU - Wolff, J. A.

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KW - organic acidemia

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Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia

Abstract

Keywords

ASJC Scopus subject areas

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