![]() Maple syrup urine disease (MSUD, OMIM 248600) is an autosomal recessive inborn error of branched-chain amino acid (BCAA) metabolism caused by deficiency of the branched-chain α-ketoacid dehydrogenase complex. Careful monitoring and interdisciplinary collaboration is essential to minimize the risk of metabolic crisis, especially after delivery. Management of pregnancy, delivery, postpartum period and lactation may be challenging in patients with MSUD. ![]() In addition to our case, we give an overview about all cases of pregnancies in MSUD mothers published so far. Leucine levels were maintained within the target range throughout the complete postpartum period. Primary Caesarean section was performed in week 38 of gestation, and the patient gave birth to a healthy girl. To maximize patient safety during delivery and the postpartum period, a detailed plan including peripartal infusion therapy, dietary recommendations and monitoring parameters was developed. From the second trimester until delivery, protein and leucine intake increased continuously to about threefold compared to pre-pregnancy values. Despite excellent compliance, leucine concentrations frequently exceeded the target value of < 300 μmol/L during the first trimester. Branched-chain amino acid concentrations were measured at least weekly to adjust dietary leucine intake. ![]() She presented in the metabolic outpatient clinic in week 7 of gestation. We present the favorable outcome of a pregnancy in a woman with classical MSUD. Only few cases of pregnancies in MSUD mothers have been reported so far. These episodes are often triggered by physiological stress. Patients with MSUD are at risk of life-threatening metabolic decompensations with ketoacidosis and encephalopathy. Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid metabolism.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |