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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
Aminoacid and organic acids related disorders
