---
_id: '17075'
abstract:
- lang: eng
  text: 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).
acknowledgement: The authors thank Dr. Christian Lueck (Canberra Hospital) for clarification
  of differential diagnosis in cases of episodic ataxia. The authors thank Dr. Rafael
  Artuch (Hospital San Joan de Deu, Barcelona) for reference values of plasma amino
  acid concentration. The authors also thank Lisa Kraus (Institute of Science and
  Technology-Austria) and Dr. Susanna Bodoy (IRB-Barcelona) that helped in preparing
  tables and bibliography.
article_processing_charge: No
author:
- first_name: Manuel
  full_name: Palacín, Manuel
  last_name: Palacín
- first_name: Stefan
  full_name: Bröer, Stefan
  last_name: Bröer
- first_name: Gaia
  full_name: Novarino, Gaia
  id: 3E57A680-F248-11E8-B48F-1D18A9856A87
  last_name: Novarino
  orcid: 0000-0002-7673-7178
citation:
  ama: '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>'
  apa: '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>'
  chicago: '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>.'
  ieee: '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.'
  ista: '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.'
  mla: 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>.
  short: 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.
date_created: 2024-05-29T06:13:04Z
date_published: 2022-02-22T00:00:00Z
date_updated: 2024-07-31T11:45:50Z
day: '22'
department:
- _id: GaNo
doi: 10.1007/978-3-030-67727-5_18
edition: '2'
editor:
- first_name: Nenad
  full_name: Blau, Nenad
  last_name: Blau
- first_name: Carlo Dionisi
  full_name: Vici, Carlo Dionisi
  last_name: Vici
- first_name: 'Carlos R. '
  full_name: 'Ferreira, Carlos R. '
  last_name: Ferreira
- first_name: Christine
  full_name: Vianey-Saban, Christine
  last_name: Vianey-Saban
- first_name: Clara D.M.
  full_name: van Karnebeek, Clara D.M.
  last_name: van Karnebeek
language:
- iso: eng
month: '02'
oa_version: None
page: 291-312
place: Cham
publication: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited
  Metabolic Diseases
publication_identifier:
  eisbn:
  - '9783030677275'
  isbn:
  - '9783030677268'
publication_status: published
publisher: Springer Nature
quality_controlled: '1'
scopus_import: '1'
status: public
title: Amino Acid Transport Defects
type: book_chapter
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
year: '2022'
...