2026-05-21T23:19:56Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/179442024-11-28T15:26:09Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927

00925njm 22002777a 4500 dc Yahyaoui, Raquel author Pérez-Frías, Javier author 2019-12-23 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. 10.3390/ijms21010119 1422-0067 International Journal of Molecular Sciences http://hdl.handle.net/10668/3627 31878022 http://hdl.handle.net/20.500.12105/17944 SLC Solute carriers Membrane transport Inborn errors of metabolism Amino acid transporter Symporter Inherited metabolic disorders Proteínas transportadoras de solutos Errores innatos del metabolismo Sistemas de transporte de aminoácidos Simportadores Encefalopatías metabólicas innatas Amino Acid Transport Defects in Human Inherited Metabolic Disorders