Page last updated: 2024-09-27

Amino Acid Transport Disorders, Inborn

Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)

Synonyms(4)

Synonym
Transport Disorders, Amino Acid, Inborn
Inborn Transport Disorders, Amino Acid
Amino Acid Transport Disorders, Inborn
Inherited Amino Acid Transport Disorders

Research

Studies (17)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's13 (76.47)18.1394
2010's4 (23.53)28.8240
2020's0 (0.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
carnitine0low10
methylmalonic acid0low10
creatine0low40
glycine0low20
orotic acid0low10
urea0low20
aspartic acid0low10
lysine0medium90
arginine0low20
citrulline0low20
n-acetylaspartic acid0low10
vitamin b 120low10

Protein Targets (132)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE3003
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0011
thioredoxin reductase1001
phosphopantetheinyl transferase3003
NFKB1 protein, partial1001
GLS protein1001
thyroid stimulating hormone receptor1001
alpha-galactosidase1001
euchromatic histone-lysine N-methyltransferase 23003
cytochrome P450 2C19 precursor2002
chromobox protein homolog 12002
flap endonuclease 11001
DNA polymerase iota isoform a (long)2002
muscarinic acetylcholine receptor M11001
lethal factor (plasmid)3003
Cytochrome P450 3A40001
Nitric oxide synthase, endothelial0002
Nitric oxide synthase, brain0102
Nitric oxide synthase, brain 0102
Nitric oxide synthase, inducible0001
Nitric oxide synthase, inducible0013
Cationic amino acid transporter 30202
ATP-dependent phosphofructokinase1001
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Chain A, Ferritin light chain1001
aldehyde dehydrogenase 1 family, member A13003
arylsulfatase A1001
Bloom syndrome protein isoform 11001
lamin isoform A-delta103003
Metabotropic glutamate receptor 60011
Excitatory amino acid transporter 40101
Glutamate transporter homolog0011
Carbonic anhydrase 10001
Carbonic anhydrase 20001
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase0101
5-hydroxytryptamine receptor 1D0001
Glutamate receptor ionotropic, NMDA 1 0314
Excitatory amino acid transporter 10101
Excitatory amino acid transporter 20101
Excitatory amino acid transporter 30101
Glutamate receptor ionotropic, NMDA 2A 0314
Glutamate receptor ionotropic, NMDA 2B0314
Glutamate receptor ionotropic, NMDA 2C0314
Metabotropic glutamate receptor 10011
Metabotropic glutamate receptor 20011
Carbonic anhydrase-like protein, putative0001
Glutamate receptor ionotropic, NMDA 2D0314
Glutamate receptor ionotropic, NMDA 3B0314
Carbonic anhydrase 40001
Glutamate receptor ionotropic, NMDA 3A0314
Solute carrier family 22 member 50001
Solute carrier family 22 member 50001
Bile salt export pump0101
Solute carrier family 22 member 160001
Solute carrier family 22 member 210001
Solute carrier family 22 member 50001
N(G),N(G)-dimethylarginine dimethylaminohydrolase 10101
General amino-acid permease GAP10001
Sodium- and chloride-dependent creatine transporter 10101
Proton-coupled amino acid transporter 10303
AR protein2002
Glycine receptor subunit alpha-10011
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Sodium- and chloride-dependent glycine transporter 10101
Large neutral amino acids transporter small subunit 10101
Serine racemase0101
Olfactory receptor 51E20022
Sodium- and chloride-dependent glycine transporter 20101
Gamma-aminobutyric acid receptor subunit pi0101
Gamma-aminobutyric acid receptor subunit beta-10101
Gamma-aminobutyric acid receptor subunit delta0101
Gamma-aminobutyric acid receptor subunit gamma-20101
Gamma-aminobutyric acid receptor subunit alpha-50101
Gamma-aminobutyric acid receptor subunit alpha-30101
Gamma-aminobutyric acid receptor subunit gamma-10101
Gamma-aminobutyric acid receptor subunit alpha-20101
Gamma-aminobutyric acid receptor subunit alpha-40101
Gamma-aminobutyric acid receptor subunit gamma-30101
Gamma-aminobutyric acid receptor subunit alpha-60101
Gamma-aminobutyric acid receptor subunit alpha-10101
Gamma-aminobutyric acid receptor subunit beta-30101
Gamma-aminobutyric acid receptor subunit beta-20101
GABA theta subunit0101
Gamma-aminobutyric acid receptor subunit epsilon0101
Chain A, Ribulose-1,5 bisphosphate carboxylase/oxygenase large subunit N-methyltransferase, chloroplast0101
Chain A, Ribulose-1,5 bisphosphate carboxylase/oxygenase large subunit N-methyltransferase, chloroplast0101
potassium voltage-gated channel subfamily H member 2 isoform d1001
Glutathione reductase, mitochondrial0202
Chain A, Beta-lactamase1001
Chain A, JmjC domain-containing histone demethylation protein 3A1001
importin subunit beta-1 isoform 11001
snurportin-11001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 12002
tumor susceptibility gene 101 protein1001
GTP-binding nuclear protein Ran isoform 11001
geminin2002
Guanine nucleotide-binding protein G1001
Serine racemase0101
67.9K protein1001
nuclear factor erythroid 2-related factor 2 isoform 21001
transcriptional regulator ERG isoform 31001
DNA polymerase kappa isoform 11001
Solute carrier family 22 member 200101
Solute carrier family 22 member 60101
Rap guanine nucleotide exchange factor 41001
RAR-related orphan receptor gamma2002
GLI family zinc finger 32002
estrogen receptor 2 (ER beta)1001
progesterone receptor1001
glucocorticoid receptor [Homo sapiens]1001
retinoic acid nuclear receptor alpha variant 12002
retinoid X nuclear receptor alpha2002
estrogen-related nuclear receptor alpha2002
peroxisome proliferator activated receptor gamma1001
activating transcription factor 61001
v-jun sarcoma virus 17 oncogene homolog (avian)2002
heat shock protein beta-11001
Solute carrier family 2, facilitated glucose transporter member 90112
caspase 7, apoptosis-related cysteine protease1001
nuclear receptor subfamily 1, group I, member 31001
pregnane X nuclear receptor1001
estrogen nuclear receptor alpha1001
peroxisome proliferator-activated receptor delta1001
caspase-31001
Histone H2A.x1001
nuclear factor erythroid 2-related factor 2 isoform 11001
Rap guanine nucleotide exchange factor 31001
Urease subunit alpha0101
Urease subunit beta0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]