Abstract
Amino acid transporters play very important roles in nutrient uptake, neurotransmitter recycling, protein synthesis, gene expression, cell redox balance, cell signaling, and regulation of cell volume. With regard to transporters that are closely connected to metabolism, amino acid transporter-associated diseases are linked to metabolic disorders, particularly when they involve different organs, cell types, or cell compartments. To date, 65 different human solute carrier (SLC) families and more than 400 transporter genes have been identified, including 11 that are known to include amino acid transporters. This review intends to summarize and update all the conditions in which a strong association has been found between an amino acid transporter and an inherited metabolic disorder. Many of these inherited disorders have been identified in recent years. In this work, the physiological functions of amino acid transporters will be described by the inherited diseases that arise from transporter impairment. The pathogenesis, clinical phenotype, laboratory findings, diagnosis, genetics, and treatment of these disorders are also briefly described. Appropriate clinical and diagnostic characterization of the underlying molecular defect may give patients the opportunity to avail themselves of appropriate therapeutic options in the future.
Highlights
Amino acids are key metabolites that are vital for cells and organisms
Amino acid transporters are classified into solute carrier (SLC) families based on sequence similarity [3]
The physiological functions of amino acid transporters will be described by the inherited diseases that arise from transporter impairment
Summary
Amino acids are key metabolites that are vital for cells and organisms. They are used as energy metabolites, are the basic elements for protein synthesis, and are precursors or aid in the biosynthesis of signaling molecules such as neurotransmitters and peptide hormones. It is a rare autosomal recessive disorder caused by loss-of-function mutations in the SLC1A1 gene, which encodes the excitatory amino acid transporter 3 (EAAT3) This affects glutamate and aspartate transport in the intestine, kidney, and brain [21]. Biallelic mutations in the SLC1A4 gene have been implicated as a very rare cause of neurodevelopmental disorders, including congenital microcephaly, epileptic encephalopathy, severe hypotonia, global developmental delay, spasticity that is most prominent in the lower limbs, and thin corpus callosum [49,52,53,54,55] At present, this genetic condition has been diagnosed almost exclusively in a small number of individuals of Ashkenazi Jewish descent. Another therapeutic strategy is maternal soothing, which has been observed to halt hyperekplexia attacks on numerous occasions [103]
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