Pregnancy in an adolescent with maple syrup urine disease: Case report

Abadingo, Michelle E.; Abacan, Mary Ann R.; Basas, Jeanne Ruth U.; Padilla, Carmencita D.

doi:10.1016/j.ymgmr.2021.100745

Cited by 3 publications

(2 citation statements)

References 21 publications

(20 reference statements)

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“…The patient's protein intake was approximately 30 g/day. Delivery was by emergency caesarean section with intravenous lipids and fluid supplementation [28]. Another similar case was reported from Japan in a thirty-one-year-old individual [37].…”

Section: Msud and Pregnancymentioning

confidence: 68%

Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations

et al. 2023

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Organic acidurias are a heterogeneous group of rare inherited metabolic disorders (IMDs) caused by a deficiency of an enzyme or a transport protein involved in the intermediary metabolic pathways. These enzymatic defects lead to an accumulation of organic acids in different tissues and their subsequent excretion in urine. Organic acidurias include maple syrup urine disease, propionic aciduria, methylmalonic aciduria, isovaleric aciduria, and glutaric aciduria type 1. Clinical features vary between different organic acid disorders and may present with severe complications. An increasing number of women with rare IMDs are reporting successful pregnancy outcomes. Normal pregnancy causes profound anatomical, biochemical and physiological changes. Significant changes in metabolism and nutritional requirements take place during different stages of pregnancy in IMDs. Foetal demands increase with the progression of pregnancy, representing a challenging biological stressor in patients with organic acidurias as well as catabolic states post-delivery. In this work, we present an overview of metabolic considerations for pregnancy in patients with organic acidurias.

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Section: Msud and Pregnancymentioning

confidence: 68%

Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations

et al. 2023

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“…In addition to the limitations of NBS, genetic testing may detect VUS; the latter is detected in these analyses but does not provide detailed information about the mutation, whether disease-related or not, and further deep functional studies are required to identify the impact and relationship of VUS to the disease [ 25 ]. Some reports illustrate that some newly identified MSUD patients are found to have VUS in their MSUD-related genetic mutations and require functional analyses to confirm the pathogenicity of these variants [ 26 , 27 ].…”

Section: Discussionmentioning

confidence: 99%

Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease

Alotaibi,

AlMalki,

Al Mogren

et al. 2024

IJMS

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Currently, tandem mass spectrometry-based newborn screening (NBS), which examines targeted biomarkers, is the first approach used for the early detection of maple syrup urine disease (MSUD) in newborns, followed by confirmatory genetic mutation tests. However, these diagnostic approaches have limitations, demanding the development of additional tools for the diagnosis/screening of MUSD. Recently, untargeted metabolomics has been used to explore metabolic profiling and discover the potential biomarkers/pathways of inherited metabolic diseases. Thus, we aimed to discover a distinctive metabolic profile and biomarkers/pathways for MSUD newborns using untargeted metabolomics. Herein, untargeted metabolomics was used to analyze dried blood spot (DBS) samples from 22 MSUD and 22 healthy control newborns. Our data identified 210 altered endogenous metabolites in MSUD newborns and new potential MSUD biomarkers, particularly L-alloisoleucine, methionine, and lysoPI. In addition, the most impacted pathways in MSUD newborns were the ascorbate and aldarate pathways and pentose and glucuronate interconversions, suggesting that oxidative and detoxification events may occur in early life. Our approach leads to the identification of new potential biomarkers/pathways that could be used for the early diagnosis/screening of MSUD newborns but require further validation studies. Our untargeted metabolomics findings have undoubtedly added new insights to our understanding of the pathogenicity of MSUD, which helps us select the appropriate early treatments for better health outcomes.

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A Smart Monitoring System for Self-Nutrition Management in Pediatric Patients with Inherited Metabolic Disorders: Maple Syrup Urine Disease (MSUD)

Banjar

2023

Healthcare

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A metabolic disorder is due to a gene mutation that causes an enzyme deficiency which leads to metabolism problems. Maple Syrup Urine Disease (MSUD) is one of the most common and severe hereditary metabolic disorders in Saudi Arabia. Patients and families were burdened by complex and regular dietary therapy menus because of the lack of information on food labels, it was also difficult to keep track of MSUD’s typical diet. The prototype smart plate system proposed in this work may help patients with MSUD and their caregivers better manage the patients’ MSUD diet. The use of knowledge-based, food identification techniques and a device could provide a support tool for self-nutrition management in pediatric patients. The requirements of the system are specified by using questionaries. The design of the prototype is divided into two parts: software (mobile application) and hardware (3D model of the plate). The knowledge-based mobile application contains knowledge, databases, inference, food recognition, food plan, monitor food plan, and user interfaces. The hardware prototype is represented in a 3D model. All the patients agreed that a smart plate system connected to a mobile application could help to track and record their daily diet. A self-management application can help MSUD patients manage their diet in a way that is more pleasant, effortless, accurate, and intelligent than was previously possible with paper records. This could support dietetic professional practitioners and their patients to achieve sustainable results.

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Pregnancy in an adolescent with maple syrup urine disease: Case report

Cited by 3 publications

References 21 publications

Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations

Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations

Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease

A Smart Monitoring System for Self-Nutrition Management in Pediatric Patients with Inherited Metabolic Disorders: Maple Syrup Urine Disease (MSUD)

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