Yahyaoui, RaquelPérez-Frías, Javier2022-05-112022-05-112019-12-23Yahyaoui R, Pérez-Frías J. Amino Acid Transport Defects in Human Inherited Metabolic Disorders. Int J Mol Sci. 2019 Dec 23;21(1):119http://hdl.handle.net/10668/3627Amino 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.enAtribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/SLCSolute carriersMembrane transportInborn errors of metabolismAmino acid transporterSymporterInherited metabolic disordersProteínas transportadoras de solutosErrores innatos del metabolismoSistemas de transporte de aminoácidosSimportadoresEncefalopatías metabólicas innatasMedical Subject Headings::Phenomena and Processes::Metabolic Phenomena::Metabolism::Biological Transport::Biological Transport, ActiveMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Signal TransductionMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Membrane Transport Proteins::Amino Acid Transport SystemsMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Amino AcidsMedical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn ErrorsMedical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Brain Diseases, Metabolic, InbornMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::GenesMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotypereview article31878022open access10.3390/ijms210101191422-0067PMC6981491