RT Journal Article
T1 Amino Acid Transport Defects in Human Inherited Metabolic Disorders
A1 Yahyaoui, Raquel
A1 Pérez-Frías, Javier
K1 SLC
K1 Solute carriers
K1 Membrane transport
K1 Inborn errors of metabolism
K1 Amino acid transporter
K1 Symporter
K1 Inherited metabolic disorders
K1 Proteínas transportadoras de solutos
K1 Errores innatos del metabolismo
K1 Sistemas de transporte de aminoácidos
K1 Simportadores
K1 Encefalopatías metabólicas innatas
AB 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.
PB MDPI
YR 2019
FD 2019-12-23
LK http://hdl.handle.net/10668/3627
UL http://hdl.handle.net/10668/3627
LA en
NO Yahyaoui R, Pérez-Frías J. Amino Acid Transport Defects in Human Inherited Metabolic Disorders. Int J Mol Sci. 2019 Dec 23;21(1):119
DS RISalud
RD Apr 7, 2025