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

SUBMITTER: Grunert SC 

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

REPOSITORIES: biostudies-literature