---
res:
  bibo_abstract:
  - 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).@eng
  bibo_authorlist:
  - foaf_Person:
      foaf_givenName: Manuel
      foaf_name: Palacín, Manuel
      foaf_surname: Palacín
  - foaf_Person:
      foaf_givenName: Stefan
      foaf_name: Bröer, Stefan
      foaf_surname: Bröer
  - foaf_Person:
      foaf_givenName: Gaia
      foaf_name: Novarino, Gaia
      foaf_surname: Novarino
      foaf_workInfoHomepage: http://www.librecat.org/personId=3E57A680-F248-11E8-B48F-1D18A9856A87
    orcid: 0000-0002-7673-7178
  bibo_doi: 10.1007/978-3-030-67727-5_18
  dct_date: 2022^xs_gYear
  dct_isPartOf:
  - http://id.crossref.org/issn/9783030677268
  dct_language: eng
  dct_publisher: Springer Nature@
  dct_title: Amino Acid Transport Defects@
...