From: Successful pregnancy in maple syrup urine disease: a case report and review of the literature
MSUD subtype | presentation in metabolic outpatient clinic (week/month of gestation) | compliance during pregnancy | leucine tolerance before pregnancy (mg/kg/d) | natural protein tolerance before pregnancy | maximum leucine tolerance during pregnancy (mg/kg/d) | maximum protein tolerance during pregnancy | mode of delivery | peripartal infusion therapy | discharge from hospital (day postpartum) | offspring | breastfeeding | additional information | Reference | |
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1 | classical | 2 months | good | n.a. | 0.6-0.8 g/kg/d | n.a. | 1.5 g/kg/d | spontaneous, 40 weeks of gestation | yes | n.a. | healthy | no | slowed fetal growth in week 37 with concomitant low BCAA levels, 9 days postpartum dizziness and lethargy, leucine level 1015 μmol/l | Van Calcar 1992 [5] |
2 | classical | 6th week | good | n.a., 350-750 | n.a. | 2100 | n.a. | spontaneous, 36 weeks of gestation | no | n.a. | healthy | yes | leucine peak of 1100 μmol/l on day 9 postpartum | Grünewald 1998 [8] |
3 | n.a. | 24th week | good | n.a. | n.a. | n.a. | 1.2 g/kg/d | spontaneous, 36 weeks of gestation | n.a. | day 16 | healthy | n.a. | elevated BCAA levels postpartum, death of the mother on day 51 postpartum, bilateral pulmonary contusions and brain edema | Yoshida 2003 [7] |
4 | classical | 10 weeks | poor | n.a. | 15–35 g/d | n.a. | n.a. | spontaneous, 40 weeks of gestation | n.a. | day 8 | healthy | n.a. | metabolic decompensation with several seizures and unconciusness in week 14 of gestation; mastitis on day 12 post partum, leucine level 549 μmol/l. | Tchan 2013 [10] |
5 | classical | 27 weeks | poor | n.a. | 30-50 g/d | n.a. | n.a. | emergency Caesarean section due to rupture of membranes and failure to progress, 41 weeks of gestation | n.a. | selfdischarged against medical advice on day 12 | healthy | n.a. | Poor compliance with leucine levels typically 700–1300 μmol/l; acute febrile illness and threatened premature labour in week 28 of gestation; mineral, vitamin and protein deficiency diagnosed durig pregnancy | Tchan 2013 [10] |
6 | classical | 10 weeks | good | 600-900 | n.a. | 2400 | n.a. | induced labour in week 37, chorioamnionitis and failure to progressafter 48 h, secondary Caesarean section | yes | day 10 | healthy | yes | mild nausea and vomiting in early pregnancy; mild increase in blood pressure and concerns about preeclampsia in week 36; 4 episodes of elevated leucine levels up to 1082 μmol/L during lactation | Wessel 2015 [4] |
7 | classical | 7th week | good | 300-500 | 5 g/d | 3000 | 30 g/d | spontaneous, 41 weeks of gestation | yes | day 5 | healthy | yes | no complications | Heiber 2015 [9] |
8 | moderate | n.a. | n.a. | n.a. | 30 g/d | n.a. | n.a. | n.a. | n.a. | n.a. | healthy | n.a. | same mother, first pregnancy of the mother not reported in deteil, but „was managed in a similar way to the second one“; persistent nausea throughout the pregnancy | Brown 2017 [6] |
9 | moderate | n.a. | good | n.a. | 30 g/d | n.a. | 60 g/d | spontaneous, 40 weeks of gestation | no | day 4 | healthy | no | Brown 2017 [6] | |
10 | classical | 7th week | good | 750 | 5-10 g/d | 2400 | 30 g/d | Caesarean section, 38 weeks of gestation | yes | day 7 | healthy | yes | no complications | this case |