Successful pregnancy in maple syrup urine disease: a case report and review of the literature.

ABSTRACT:

Background

Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid metabolism. Patients with MSUD are at risk of life-threatening metabolic decompensations with ketoacidosis and encephalopathy. These episodes are often triggered by physiological stress. Only few cases of pregnancies in MSUD mothers have been reported so far.

Case presentation

We present the favorable outcome of a pregnancy in a woman with classical MSUD. She presented in the metabolic outpatient clinic in week 7 of gestation. Branched-chain amino acid concentrations were measured at least weekly to adjust dietary leucine intake. Despite excellent compliance, leucine concentrations frequently exceeded the target value of < 300 μmol/L during the first trimester. From th

SUBMITTER: Grunert SC 

PROVIDER: S-EPMC5948788 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature