ArticleMolecular neurobiology2017
Serum Markers of Neurodegeneration in Maple Syrup Urine Disease.
Article in Molecular neurobiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Expression and Localization of Branched-Chain Ketoacid Dehydrogenase E1 Subunits and LAT1 Transporter in Rat Retinal and Ocular Tissues.Neurochemical research · 2026Article
- Neurodegenerative biomarkers and inflammation in patients with propionic and methylmalonic acidemias: effect of L-carnitine treatment.Metabolic brain disease · 2024Article
- Branched-Chain Amino Acid Assembly into Amyloid-like Fibrils Provides a New Paradigm for Maple Syrup Urine Disease Pathology.International journal of molecular sciences · 2023Article
- PPM1K mediates metabolic disorder of branched-chain amino acid and regulates cerebral ischemia-reperfusion injury by activating ferroptosis in neurons.Cell death & disease · 2023Article
- Acute effects of intracerebroventricular administration of α-ketoisocaproic acid in young rats on inflammatory parameters.Metabolic brain disease · 2023Article
- Coadministration of tianeptine alters behavioral parameters and levels of neurotrophins in a chronic model of Maple Syrup Urine disease.Metabolic brain disease · 2022Article
- Exposure to leucine induces oxidative stress in the brain of zebrafish.Metabolic brain disease · 2022Article
- Cathepsin D-Managing the Delicate Balance.Pharmaceutics · 2021Review
- Article
- The metabolic effect of α-ketoisocaproic acid: in vivo and in vitro studies.Metabolic brain disease · 2021Article
- Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.Scientific reports · 2019Article
- Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.Genetics and molecular biology · 2019Article
- Concentrations of immune marker in newborn dried blood spots and early childhood development: Results from the Upstate KIDS Study.Paediatric and perinatal epidemiology · 2018Article
- Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.Journal of inherited metabolic disease · 2018Article
- Maple syrup urine disease: mechanisms and management.The application of clinical genetics · 2017Review
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Maple syrup urine disease (MSUD) is an inherited disorder caused by deficient activity of the branched-chain α-keto acid dehydrogenase complex involved in the degradation pathway of branched-chain amino acids (BCAAs) and their respective α-keto-acids. Patients affected by MSUD present severe neurological symptoms and brain abnormalities, whose pathophysiology is poorly known. However, preclinical studies have suggested alterations in markers involved with neurodegeneration. Because there are no studies in the literature that report the neurodegenerative markers in MSUD patients, the present study evaluated neurodegenerative markers (brain-derived neurotrophic factor (BDNF), cathepsin D, neural cell adhesion molecule (NCAM), plasminogen activator inhibitor-1 total (PAI-1 (total)), platelet-derived growth factor AA (PDGF-AA), PDGF-AB/BB) in plasma from 10 MSUD patients during dietary treatment. Our results showed a significant decrease in BDNF and PDGF-AA levels in MSUD patients. On the other hand, NCAM and cathepsin D levels were significantly greater in MSUD patients compared to the control group, while no significant changes were observed in the levels of PAI-1 (total) and PDGF-AB/BB between the control and MSUD groups. Our data show that MSUD patients present alterations in proteins involved in the neurodegenerative process. Thus, the present findings corroborate previous studies that demonstrated that neurotrophic factors and lysosomal proteases may contribute, along with other mechanisms, to the intellectual deficit and neurodegeneration observed in MSUD.
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