The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients

Tchan, Michel; Westbrook, Mary T.; Wilcox, Gisela; Cutler, Roy G.; Smith, Narelle; Penman, Rebecca; Strauss, Boyd Josef Gimnicher; Wilcken, Bridget

doi:10.1007/8904_2013_212

Cited by 14 publications

(17 citation statements)

References 8 publications

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“…Death with cerebral oedema has been reported 51 days post-partum, confounded by concurrent physical trauma [ 105 ], but successful pregnancies have been reported in the literature [ 106 – 109 ] as well as others (G Wilcox unpublished observations). Though rats, leucine-exposed neonatally, display long-term neuro-behavioural disturbance [ 110 ], no adverse outcomes are yet described in the children of mothers with MSUD, despite poor compliance and suboptimal metabolic control in some [ 108 ]. Leucine requirements increase disproportionately during late pregnancy [ 17 ], which may be protective.…”

Section: Types Of Iem and How They May Be Impacted Upon By Pregnancymentioning

confidence: 99%

Impact of pregnancy on inborn errors of metabolism

Wilcox

2018

Rev Endocr Metab Disord

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Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic disorders (IMD) represent a growing adult medicine specialty. Individually rare these conditions have currently, a collective estimated prevalence of >1:800. Diagnosis has improved through expanded newborn screening programs, identification of potentially affected family members and greater awareness of symptomatic presentations in adolescence and in adulthood. Better survival and reduced mortality from previously lethal and debilitating conditions means greater numbers transition to adulthood. Pregnancy, once contraindicated for many, may represent a challenging but successful outcome. Successful pregnancies are now reported in a wide range of IEM. Significant challenges remain, given the biological stresses of pregnancy, parturition and the puerperium. Known diagnoses allow preventive and pre-emptive management. Unrecognized metabolic disorders especially, remain a preventable cause of maternal and neonatal mortality and morbidity. Increased awareness of these conditions amongst all clinicians is essential to expedite diagnosis and manage appropriately. This review aims to describe normal adaptations to pregnancy and discuss how various types of IEM may be affected. Relevant translational research and clinical experience will be reviewed with practical management aspects cited. Based on current literature, the impact of maternal IEM on mother and/or foetus, as well as how foetal IEM may affect the mother, will be considered. Insights gained from these rare disorders to more common conditions will be explored. Gaps in the literature, unanswered questions and steps to enhance further knowledge and systematically capture experience, such as establishment of an IEM-pregnancy registry, will be summarized.

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Section: Types Of Iem and How They May Be Impacted Upon By Pregnancymentioning

confidence: 99%

Impact of pregnancy on inborn errors of metabolism

Wilcox

2018

Rev Endocr Metab Disord

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“…However, experience in the management of pregnancy, delivery and lactation is still limited for most disorders. Only nine cases of pregnancy in classical MSUD patients have been reported so far [ 4 – 10 ]. Details on these cases are displayed in Table 1 .…”

Section: Resultsmentioning

confidence: 99%

“… 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.…”

Section: Resultsmentioning

confidence: 99%

“… 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.…”

Section: Resultsmentioning

confidence: 99%

“…Only few cases of pregnancies in MSUD patients have been reported so far [ 4 – 10 ]. The overall outcome seems to be favorable.…”

Section: Introductionmentioning

confidence: 99%

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

Grünert

Schumann

Schwab

et al. 2018

Nutr J

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BackgroundMaple 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 presentationWe 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 the second trimester until delivery, protein and leucine intake increased continuously to about threefold compared to pre-pregnancy values. To maximize patient safety during delivery and the postpartum period, a detailed plan including peripartal infusion therapy, dietary recommendations and monitoring parameters was developed. Primary Caesarean section was performed in week 38 of gestation, and the patient gave birth to a healthy girl. Lactation was successfully implemented. Leucine levels were maintained within the target range throughout the complete postpartum period.In addition to our case, we give an overview about all cases of pregnancies in MSUD mothers published so far.ConclusionsManagement of pregnancy, delivery, postpartum period and lactation may be challenging in patients with MSUD. Careful monitoring and interdisciplinary collaboration is essential to minimize the risk of metabolic crisis, especially after delivery.Electronic supplementary materialThe online version of this article (10.1186/s12937-018-0357-7) contains supplementary material, which is available to authorized users.

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Ibuprofen during gestation prevents some changes in physical and reflex development in offspring in a model of hyperleucinemia and maternal inflammation

Franceschi

Silva

Minuzzi

et al. 2020

Intl J of Devlp Neuroscience

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Maple Syrup Urine Disease (MSUD) is caused by a severe deficiency in the branched‐chain ketoacid dehydrogenase complex activity. Patients MSUD accumulate the branched‐chain amino acids leucine (Leu), isoleucine, valine in blood, and other tissues. Leu and/or their branched‐chain α‐keto acids are linked to neurological damage in MSUD. When immediately diagnosed and treated, patients develop normally. Inflammation in MSUD can elicit a metabolic decompensation crisis. There are few cases of pregnancy in MSUD women, and little is known about the effect of maternal hyperleucinemia on the neurodevelopment of their babies. During pregnancy, some intercurrences like maternal infection or inflammation may affect fetal development and are linked to neurologic diseases. Lipopolysaccharide is widely accepted as a model of maternal inflammation. We analyzed the effects of maternal hyperleucinemia and inflammation and the possible positive impact the use of ibuprofen in Wistar rats on a battery of physics (ear unfolding, hair growing, incisors eruption, eye‐opening, and auditive channel opening) and neurological reflexes (palmar grasp, surface righting, negative geotaxis, air‐righting, and auditory‐startle response) maturation parameters in the offspring. Maternal hyperleucinemia and inflammation delayed some physical parameters and neurological reflexes, indicating that both situations may be harmful to fetuses, and ibuprofen reversed some settings.

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The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients

Cited by 14 publications

References 8 publications

Impact of pregnancy on inborn errors of metabolism

Impact of pregnancy on inborn errors of metabolism

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

Ibuprofen during gestation prevents some changes in physical and reflex development in offspring in a model of hyperleucinemia and maternal inflammation

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