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Abstract
Metabolic errors are inherited diseases, where genetic defects prevent a metabolic path, ending up in enzyme malfunction. In correspondence to its remaining or plenitude fall of enzymatic potency, there is an amassment of dangerous metabolites near the metabolic bar and/or a dearth of necessary products, inducing a certain disease. These metabolic errors may include deviations such as point mutations, expunctions or interferences, or further complicated genomic disorders. Based on these facts, maple syrup urine disease (MSUD) is a scarce metabolic disease, generated by huge concentrations of branched-chain amino acids (b AAs), i.e., leucine, isoleucine, and valine. In this situation, these large amounts of b AAs provoke abnormalities such as liver failure, neurocognitive dysfunctions, and probably death. To overpass those problems, it is crucial to implement a timely and agile diagnosis at the early stages of life in view of their immutable consequence on neonates. Thus, this review will describe MSUD and b AAs analysis based on electrochemical (bio)sensing.Cite this article
Karastogianni S, Girousi S. Electrochemical (Bio)Sensing of Maple Syrup Urine Disease Biomarkers Pointing to Early Diagnosis: A Review. Applied Sciences. 2020; 10(20):7023.https://doi.org/10.3390/app10207023 