Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia.
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.
Van Calcar
S C
SC
Department of Pediatrics and Medical Genetics, Waisman Center on Mental Retardation and Human Development, University Hospital and Clinics, Madison, WI.
Harding
C O
CO
Davidson
S R
SR
Barness
L A
LA
Wolff
J A
JA
D000328:Adult; D000596:Amino Acids / Q000097:blood / Q000652:urine; D019735:Carbon-Carbon Ligases; D002331:Carnitine / Q000097:blood / Q000627:therapeutic use / Q000652:urine; D002951:Citrates / Q000652:urine; D019343:Citric Acid; D005260:Female; D005317:Fetal Growth Retardation / Q000209:etiology; D006801:Humans; D007659:Ketones / Q000652:urine; D007773:Lactates / Q000652:urine; D019344:Lactic Acid / Q000031:analogs & derivatives*; D008025:Ligases / Q000097:blood; D008375:Maple Syrup Urine Disease / Q000150:complications / Q000178:diet therapy* / Q000188:drug therapy*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000097:blood* / Q000652:urine*; D011422:Propionates / Q000097:blood*
D000596:Amino Acids; D002951:Citrates; D007659:Ketones; D007773:Lactates; D011422:Propionates; D019343:Citric Acid; D019344:Lactic Acid; C031601:hydracrylic acid; D008025:Ligases; D019735:Carbon-Carbon Ligases; C022458:propionyl CoA carboxylase (ATP-hydrolyzing); C029658:propionic acid; D002331:Carnitine