Abstract
Maple Syrup Urine Disease (MSUD) is an inherited metabolic condition, with an incidence of approximately 1/185,000 infants worldwide. We discuss the case of MSUD and the management challenges that are posed by this rare condition.
A 31 year old woman presented for Maternal Medicine review in the early first trimester of her first pregnancy. She had an infant diagnosis of MSUD, which also affected two of her female siblings. She had previously attended for pre-conceptual counselling with obstetrics, metabolic medicine and anaesthesiology. Her pregnancy was complicated by hyperemesis gravidarum, posing a risk of metabolic decompensation. Dietetic input was essential in the successful management of this. Throughout pregnancy, she had frequent metabolic and antenatal visits. A male infant was delivered at xx weeks gestation owing to poor maternal weight gain and a fetus that was small for gestational age, who was not affected by MSUD.
Keywords: Maple Syrup Urine Disease (MSUD); Pregnancy; Branched Chain Amino Acid (BCAA)
References
- Maple syrup urine disease | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program [Internet]. Rarediseases.info.nih.gov. (2021).
- Maple Syrup Urine Disease (MSUD) [Internet]. Cleveland Clinic (2021).
- Xu J., et al. “Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders”. International Journal of Molecular Sciences20 (2020): 7490.
- MSUD (maple syrup urine disease) - newbornscreening.info [Internet]. Newbornscreening.info (2021).
- Grünert S., et al. “Successful pregnancy in maple syrup urine disease: a case report and review of the literature”. Nutrition Journal1 (2018): 51.
- Wessel A., et al. “Management of a woman with maple syrup urine disease during pregnancy, delivery, and lactation”. Journal of Parenteral and Enteral Nutrition 7 (2015): 875-879.
- Nutrition Management Guidelines for MSUD | Southeast Regional Genetics Network [Internet]. Southeastgenetics.org (2021).
- Maple Syrup Urine Disease (MSUD) [Internet]. Healthline (2021).
- Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Clinical Practice Guidelines [Internet]. Guideline Central (2021).
- Heiber S., et al. “Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report”. JIMD Reports 21 (2015): 103-107.
Journal Menu
Articles 
Downloads
PubMed Indexed Article
EC Pharmacology and Toxicology
LC-UV-MS and MS/MS Characterize Glutathione Reactivity with Different Isomers (2,2' and 2,4' vs. 4,4') of Methylene Diphenyl-Diisocyanate.
PMID: 31143884 [PubMed]
PMCID: PMC6536005
EC Pharmacology and Toxicology
Alzheimer's Pathogenesis, Metal-Mediated Redox Stress, and Potential Nanotheranostics.
PMID: 31565701 [PubMed]
PMCID: PMC6764777
EC Neurology
Differences in Rate of Cognitive Decline and Caregiver Burden between Alzheimer's Disease and Vascular Dementia: a Retrospective Study.
PMID: 27747317 [PubMed]
PMCID: PMC5065347
EC Pharmacology and Toxicology
Will Blockchain Technology Transform Healthcare and Biomedical Sciences?
PMID: 31460519 [PubMed]
PMCID: PMC6711478
EC Pharmacology and Toxicology
Is it a Prime Time for AI-powered Virtual Drug Screening?
PMID: 30215059 [PubMed]
PMCID: PMC6133253
EC Psychology and Psychiatry
Analysis of Evidence for the Combination of Pro-dopamine Regulator (KB220PAM) and Naltrexone to Prevent Opioid Use Disorder Relapse.
PMID: 30417173 [PubMed]
PMCID: PMC6226033
EC Anaesthesia
Arrest Under Anesthesia - What was the Culprit? A Case Report.
PMID: 30264037 [PubMed]
PMCID: PMC6155992
EC Orthopaedics
Distraction Implantation. A New Technique in Total Joint Arthroplasty and Direct Skeletal Attachment.
PMID: 30198026 [PubMed]
PMCID: PMC6124505
EC Pulmonology and Respiratory Medicine
Prevalence and factors associated with self-reported chronic obstructive pulmonary disease among adults aged 40-79: the National Health and Nutrition Examination Survey (NHANES) 2007-2012.
PMID: 30294723 [PubMed]
PMCID: PMC6169793
EC Dental Science
Important Dental Fiber-Reinforced Composite Molding Compound Breakthroughs
PMID: 29285526 [PubMed]
PMCID: PMC5743211
EC Microbiology
Prevalence of Intestinal Parasites Among HIV Infected and HIV Uninfected Patients Treated at the 1o De Maio Health Centre in Maputo, Mozambique
PMID: 29911204 [PubMed]
PMCID: PMC5999047
EC Microbiology
Macrophages and the Viral Dissemination Super Highway
PMID: 26949751 [PubMed]
PMCID: PMC4774560
EC Microbiology
The Microbiome, Antibiotics, and Health of the Pediatric Population.
PMID: 27390782 [PubMed]
PMCID: PMC4933318
EC Microbiology
Reactive Oxygen Species in HIV Infection
PMID: 28580453 [PubMed]
PMCID: PMC5450819
EC Microbiology
A Review of the CD4 T Cell Contribution to Lung Infection, Inflammation and Repair with a Focus on Wheeze and Asthma in the Pediatric Population
PMID: 26280024 [PubMed]
PMCID: PMC4533840
EC Neurology
Identifying Key Symptoms Differentiating Myalgic Encephalomyelitis and Chronic Fatigue Syndrome from Multiple Sclerosis
PMID: 28066845 [PubMed]
PMCID: PMC5214344
EC Pharmacology and Toxicology
Paradigm Shift is the Normal State of Pharmacology
PMID: 28936490 [PubMed]
PMCID: PMC5604476
EC Neurology
Examining those Meeting IOM Criteria Versus IOM Plus Fibromyalgia
PMID: 28713879 [PubMed]
PMCID: PMC5510658
EC Neurology
Unilateral Frontosphenoid Craniosynostosis: Case Report and a Review of the Literature
PMID: 28133641 [PubMed]
PMCID: PMC5267489
EC Ophthalmology
OCT-Angiography for Non-Invasive Monitoring of Neuronal and Vascular Structure in Mouse Retina: Implication for Characterization of Retinal Neurovascular Coupling
PMID: 29333536 [PubMed]
PMCID: PMC5766278
EC Neurology
Longer Duration of Downslope Treadmill Walking Induces Depression of H-Reflexes Measured during Standing and Walking.
PMID: 31032493 [PubMed]
PMCID: PMC6483108
EC Microbiology
Onchocerciasis in Mozambique: An Unknown Condition for Health Professionals.
PMID: 30957099 [PubMed]
PMCID: PMC6448571
EC Nutrition
Food Insecurity among Households with and without Podoconiosis in East and West Gojjam, Ethiopia.
PMID: 30101228 [PubMed]
PMCID: PMC6086333
EC Ophthalmology
REVIEW. +2 to +3 D. Reading Glasses to Prevent Myopia.
PMID: 31080964 [PubMed]
PMCID: PMC6508883
EC Gynaecology
Biomechanical Mapping of the Female Pelvic Floor: Uterine Prolapse Versus Normal Conditions.
PMID: 31093608 [PubMed]
PMCID: PMC6513001
EC Dental Science
Fiber-Reinforced Composites: A Breakthrough in Practical Clinical Applications with Advanced Wear Resistance for Dental Materials.
PMID: 31552397 [PubMed]
PMCID: PMC6758937
EC Microbiology
Neurocysticercosis in Child Bearing Women: An Overlooked Condition in Mozambique and a Potentially Missed Diagnosis in Women Presenting with Eclampsia.
PMID: 31681909 [PubMed]
PMCID: PMC6824723
EC Microbiology
Molecular Detection of Leptospira spp. in Rodents Trapped in the Mozambique Island City, Nampula Province, Mozambique.
PMID: 31681910 [PubMed]
PMCID: PMC6824726
EC Neurology
Endoplasmic Reticulum-Mitochondrial Cross-Talk in Neurodegenerative and Eye Diseases.
PMID: 31528859 [PubMed]
PMCID: PMC6746603
EC Psychology and Psychiatry
Can Chronic Consumption of Caffeine by Increasing D2/D3 Receptors Offer Benefit to Carriers of the DRD2 A1 Allele in Cocaine Abuse?
PMID: 31276119 [PubMed]
PMCID: PMC6604646
EC Anaesthesia
Real Time Locating Systems and sustainability of Perioperative Efficiency of Anesthesiologists.
PMID: 31406965 [PubMed]
PMCID: PMC6690616
EC Pharmacology and Toxicology
A Pilot STEM Curriculum Designed to Teach High School Students Concepts in Biochemical Engineering and Pharmacology.
PMID: 31517314 [PubMed]
PMCID: PMC6741290
EC Pharmacology and Toxicology
Toxic Mechanisms Underlying Motor Activity Changes Induced by a Mixture of Lead, Arsenic and Manganese.
PMID: 31633124 [PubMed]
PMCID: PMC6800226
EC Neurology
Research Volunteers' Attitudes Toward Chronic Fatigue Syndrome and Myalgic Encephalomyelitis.
PMID: 29662969 [PubMed]
PMCID: PMC5898812
EC Pharmacology and Toxicology
Hyperbaric Oxygen Therapy for Alzheimer's Disease.
PMID: 30215058 [PubMed]
PMCID: PMC6133268
News and Events
August Issue Release
We always feel pleasure to share our updates with you all. Here, notifying you that we have successfully released the August issue of respective journals and the latest articles can be viewed on the current issue pages.
Submission Deadline for Upcoming Issue
ECronicon delightfully welcomes all the authors around the globe for effective collaboration with an article submission for the upcoming issue of respective journals. Submissions are accepted on/before August 18, 2022.
Certificate of Publication
ECronicon honors with a "Publication Certificate" to the corresponding author by including the names of co-authors as a token of appreciation for publishing the work with our respective journals.
Best Article of the Issue
Editors of respective journals will always be very much interested in electing one Best Article after each issue release. The authors of the selected article will be honored with a "Best Article of the Issue" certificate.
Certifying for Review
ECronicon certifies the Editors for their first review done towards the assigned article of the respective journals.
Latest Articles
The latest articles will be updated immediately on the articles in press page of the respective journals.
