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.
Highlights
Amino acids are important in cellular metabolism, as they constitute the architectural parts for protein synthesis and metabolites, supplying the components for farther reactions occurring in living organisms
Problems related to the diagnosis and monitoring of maple syrup urine disease (MSUD) or the detection of L branched-chain amino acids (b AAs) underscore the need for developing new diagnostic methods using easier-to-use, low-sample-volume approaches, which is important in neonates [28,29,30]
The accretion of Leu is extremely neurotoxic [37] and excessive concentration of Leu may influence water homeostasis into the subcortical gray matter, resulting in bloating within the brain, convert nitrogen homeostasis farther draining glutamate amounts, reinforce oxidative stress, and wrestle along other amino acids, such as Tyr, in the central nervous system (CNS), which is engaged in protein signaling [35]
Summary
Amino acids are important in cellular metabolism, as they constitute the architectural parts for protein synthesis and metabolites, supplying the components for farther reactions occurring in living organisms. The case of MSUD is a scarce metabolic malady alongside a preponderance of 1:200,000 living childbirth [15] It is provoked by tremendous amounts of the L-branched-chain amino acid (b AAs), such as leucine, isoleucine, and valine (Leu, Ile, and Val, biomarkers) [18]. Problems related to the diagnosis and monitoring of MSUD or the detection of L b AAs underscore the need for developing new diagnostic methods using easier-to-use, low-sample-volume approaches, which is important in neonates [28,29,30] These requirements are met by electrochemical methods and electrochemical (bio)sensors, which are a reliable and profitable appliance for the determination of metabolic biological markers, in order to facilitate their use in the diagnosis and monitoring of this scarce disease, due to their ease of use, simplicity, selectivity, sensibility and low cost [31,32]. In this review, electrochemical (bio)sensors for the determination of branched-chain amino acids are summarized
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