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Disorders of amino acid transport

  • Hartnup disorder
  • Iminoglycinuria
  • Hyperglycinuria
  • Cystinuria type A
  • Cystinuria type B
  • Lysinuric protein intolerance (Dibasic aminoaciduria type 2)
  • Glutamate aspartate transporter deficiency (EAAT1 deficiency; episodic ataxia type 6)
  • Astroglial glutamate aspartate transporter deficiency (EAAT2 deficiency; early infantile \ epileptic encephalopathy type 41)
  • Dicarboxylic aminoaciduria
  • Large neutral amino acid transporter deficiency
  • Neuronal system A amino acid transporter deficiency (Foveal hypoplasia type 2 with or without optic nerve misrouting and/or anterior segment dysgenesis)
  • Vesicular neutral amino acid transporter 3 deficiency (Autosomal recessive intellectual disability type 48)
  • Cystinosis
  • Lysosomal cationic amino acid transporter deficiency (Retinitis pigmentosa type 68)
  • Cationic amino acid transporter 2 deficiency
  • Cationic amino acid transporter 3 deficiency
  • GABA transporter deficiency (Myoclonic-atonic epilepsy)
  • Taurine transporter deficiency
  • Dibasic aminoaciduria type 1
  • Blue diaper syndrome (Drummond syndrome)
  • Lysine malabsorption syndrome
  • Histidinuria
  • Methionine malabsorption syndrome (Oasthouse disease; Smith-Strang disease; methioninuria)

Subnetworks

AOA 1

AOA

Aminoacid and organic acids related disorders

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