book chapter published yes Manuel Palacín author Stefan Bröer author Gaia Novarino author 3E57A680-F248-11E8-B48F-1D18A9856A870000-0002-7673-7178 NenadBlau editor Carlo DionisiVici editor Carlos R. Ferreira editor ChristineVianey-Saban editor Clara D.M.van Karnebeek editor GaNo department Disorders associated with the malfunction of amino acid transporters mainly affect the function of the intestine, kidney, brain, and liver. Mutations of brain amino acid transporters, for example, alter neuronal excitability (e.g., episodic ataxia due to SLC1A3 (EAAT1) defect and hyperekplexia due to SLC6A5 (GLYT2) deficiency) or brain development (SLC1A1 (EAAT3), SLC3A2/SLC7A5 (CD98hc/LAT1), and SLC1A4 (ASCT1) deficiencies). Mutations of renal and intestinal amino acid transporters SLC3A1/SLC7A9 (rBAT/b0,+AT) and SLC1A1 (EAAT3) cause renal problems (cystinuria and dicarboxylic aminoaciduria, respectively) and malabsorption that can affect whole-body homoeostasis (Hartnup disorder SLC6A19 (B0AT1), lysinuric protein intolerance SLC3A2/SLC7A7 (CD98hc/y+LAT1), and hyperdibasic aminoaciduria type 1). Mutations in the neuronal system A amino acid transporter SLC38A8 (SNAT8) cause eye developmental and visual defects. Inborn errors associated with mitochondrial SLC25 family members such as SLC25A12 (neuronal- and muscle-specific mitochondrial aspartate/glutamate transporter 1; AGC1) (global cerebral hypomyelination), SLC25A13 (aspartate/glutamate transporter 2) (citrin deficiency), SLC25A15 (ornithine-citrulline carrier 2) (homocitrullinuria, hyperornithinemia, and hyperammonemia syndrome), and SLC25A22 (mitochondrial glutamate/H+ symporter 1, GC1) (neonatal myoclonic epilepsy) will be dealt within Chap. 43 (defects of mitochondrial carriers). Springer Nature2022 eng 978303067726810.1007/978-3-030-67727-5_18 291-312 M. Palacín, S. Bröer, G. Novarino, in:, N. Blau, C.D. Vici, C.R. Ferreira, C. Vianey-Saban, C.D.M. van Karnebeek (Eds.), Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, 2nd ed., Springer Nature, Cham, 2022, pp. 291–312. Palacín M, Bröer S, Novarino G. Amino Acid Transport Defects. In: Blau N, Vici CD, Ferreira CR, Vianey-Saban C, van Karnebeek CDM, eds. <i>Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases</i>. 2nd ed. Cham: Springer Nature; 2022:291-312. doi:<a href="https://doi.org/10.1007/978-3-030-67727-5_18">10.1007/978-3-030-67727-5_18</a> Palacín, Manuel, et al. “Amino Acid Transport Defects.” <i>Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases</i>, edited by Nenad Blau et al., 2nd ed., Springer Nature, 2022, pp. 291–312, doi:<a href="https://doi.org/10.1007/978-3-030-67727-5_18">10.1007/978-3-030-67727-5_18</a>. Palacín, Manuel, Stefan Bröer, and Gaia Novarino. “Amino Acid Transport Defects.” In <i>Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases</i>, edited by Nenad Blau, Carlo Dionisi Vici, Carlos R. Ferreira, Christine Vianey-Saban, and Clara D.M. van Karnebeek, 2nd ed., 291–312. Cham: Springer Nature, 2022. <a href="https://doi.org/10.1007/978-3-030-67727-5_18">https://doi.org/10.1007/978-3-030-67727-5_18</a>. M. Palacín, S. Bröer, and G. Novarino, “Amino Acid Transport Defects,” in <i>Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases</i>, 2nd ed., N. Blau, C. D. Vici, C. R. Ferreira, C. Vianey-Saban, and C. D. M. van Karnebeek, Eds. Cham: Springer Nature, 2022, pp. 291–312. Palacín, M., Bröer, S., &#38; Novarino, G. (2022). Amino Acid Transport Defects. In N. Blau, C. D. Vici, C. R. Ferreira, C. Vianey-Saban, &#38; C. D. M. van Karnebeek (Eds.), <i>Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases</i> (2nd ed., pp. 291–312). Cham: Springer Nature. <a href="https://doi.org/10.1007/978-3-030-67727-5_18">https://doi.org/10.1007/978-3-030-67727-5_18</a> Palacín M, Bröer S, Novarino G. 2022.Amino Acid Transport Defects. In: Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. , 291–312. 170752024-05-29T06:13:04Z2024-07-31T11:45:50Z