Premium
Pregnancy in a woman with maple syrup urine disease
Author(s) -
Grÿnewald S.,
Hinrichs F.,
Wendel U.
Publication year - 1998
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005396823030
Subject(s) - maple syrup urine disease , pregnancy , urine , medicine , gestation , leucine , decompensation , postpartum period , tyrosinemia , endocrinology , physiology , obstetrics , amino acid , chemistry , biochemistry , biology , tyrosine , genetics
We present the favourable outcome of a pregnancy in a woman with maple syrup urine disease. Keeping the maternal plasma levels of the branched‐chain amino acids between 100 and 300 µmol/L is compatible with delivery of a normal infant. Leucine tolerance increased progressively from the 22nd week of gestation from 350 to 2100 mg/day. The risk of metabolic decompensation in the postpartum period can be minimized by careful monitoring of the mother after delivery.