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

作者信息

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

机构信息

Department of Pediatrics and Medical Genetics, Waisman Center on Mental Retardation and Human Development, University Hospital and Clinics, Madison, WI.

出版信息

Am J Med Genet. 1992 Nov 15;44(5):641-6. doi: 10.1002/ajmg.1320440523.

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.