Amino Acid Transport Defects in Human Inherited Metabolic Disorders

Dear Colleagues,

Amino acid transporters play essential roles in nutrient uptake, neurotransmitter recycling, protein synthesis, gene expression, cell redox balance, cell signaling, and regulation of cell volume. To date, 66 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. 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.

There are many 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. Understanding the physiological mechanisms that regulate these transporters, their function, and their distribution will help us to better understand the pathophysiology of these diseases. Moreover, amino acid transporters have also been receiving a great amount of attention as molecular targets as they are preferentially expressed in some cancer cells. Indeed, the therapeutic approach using transporter inhibitors for cancer prevention has been proven to be efficacious in cell lines and animal experiments and is now under evaluation in a clinical trial.

We encourage the submission of original research articles, communications, and topical reviews on all aspects related to metabolic inherited diseases that arise from amino acid transporter impairment: pathogenesis, laboratory findings, diagnosis, molecular research, and therapeutic targets.

Dr. Domingo González-Lamuño
Dr. Raquel Yahyaoui
Guest Editors

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• amino acid transporter
• inborn errors of metabolism
• inherited metabolic disorders
• SLC
• solute carriers
• membrane transport
• symporter