Page last updated: 2024-09-27

AGA Deficiency

A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.

Synonyms(5)

Synonym
Aspartylglucosamidase Deficiency
Glycoasparaginase Deficiency
AGA Deficiency
Aspartylglycosaminuria
Aspartylglucosaminuria

Research Excerpts

Overview

ExcerptReference
"1."( Maury, P; Palo, J, 1980)
"Thus aspartylglucosaminuria is primarily a gray-matter disease also affecting white matter by delaying myelination."( Aronen, HJ; Autti, T; Haltia, M; Lauronen, L; Raininko, R; Salonen, O; Santavuori, P; Vanhanen, SL; Wirtavuori, K, 1997)

Research

Studies (75)

TimeframeStudies, This Condition (%)All Conditions %
pre-199029 (38.67)23.3326
1990's35 (46.67)12.5806
2000's6 (8.00)18.1394
2010's4 (5.33)28.8240
2020's1 (1.33)9.53
DrugIndicatedRelationship StrengthStudiesTrials
glycine0low20
amlexanox0low10
aspartic acid0low90
galactose0low20
phenylalanine0low10
asparagine0low80
alpha-aminopyridine0low10
fucose0low30
mannose0low30
acetylglucosamine0medium550
trolamine salicylate0low10
aspartate-beta-hydroxamate0low10
fibrinogen0low10
glucuronic acid0low10
n-acetylglucosaminylasparagine0medium490
biotin0low10
glycogen0low10
mannose-6-phosphate0low10
glucosamine0low170
dermatan sulfate0low10
luteolin0low10
cysteine0low10
dolichols0low10
g(m2) ganglioside0low10
g(m1) ganglioside0low10
oligonucleotides0low10
glycolipids0low10
heparitin sulfate0low10
epidermal growth factor0low10
chondroitin sulfates0low10

Protein Targets (398)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Putative glycosyltransferase WbgO0001
Cytochrome P450 3A40101
Cannabinoid receptor 10101
Killer cell lectin-like receptor subfamily B member 1A0101
Early activation antigen CD690101
AR protein3003
retinoic acid nuclear receptor alpha variant 12002
estrogen nuclear receptor alpha4004
thyroid stimulating hormone receptor1001
thyroid hormone receptor beta isoform 22002
Voltage-dependent calcium channel gamma-2 subunit1001
Heat shock protein HSP 90-alpha0011
Botulinum neurotoxin type A 0101
Neutrophil cytosol factor 10101
Glutamate receptor 21001
Nitric oxide synthase, endothelial0101
Nitric oxide synthase, brain0101
Nitric oxide synthase, brain 0101
Nitric oxide synthase, inducible0101
Kappa-type opioid receptor0112
Phosphatidylinositol 4-kinase alpha0101
Mu-type opioid receptor0011
Tyrosine-protein kinase 0011
Phosphatidylinositol 4-kinase type 2-beta0101
Phosphatidylinositol 4-kinase type 2-alpha0101
Phosphatidylinositol 4-kinase beta0101
Chain A, Putative fructose-1,6-bisphosphate aldolase1001
Chain A, 2-oxoglutarate Oxygenase2002
Luciferase3003
RAR-related orphan receptor gamma3003
SMAD family member 21001
USP1 protein, partial3003
PPM1D protein2002
SMAD family member 31001
caspase 7, apoptosis-related cysteine protease1001
estrogen receptor 2 (ER beta)1001
hypothetical protein, conserved1001
nuclear receptor subfamily 1, group I, member 31001
cytochrome P450 family 3 subfamily A polypeptide 41001
EWS/FLI fusion protein2002
retinoid X nuclear receptor alpha2002
estrogen-related nuclear receptor alpha1001
pregnane X nuclear receptor1001
G1001
cytochrome P450 2D61001
glucocerebrosidase2002
peroxisome proliferator-activated receptor delta1001
vitamin D (1,25- dihydroxyvitamin D3) receptor2002
alpha-galactosidase2002
pyruvate kinase1001
caspase-31001
euchromatic histone-lysine N-methyltransferase 23003
aryl hydrocarbon receptor1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
nuclear receptor subfamily 1, group I, member 21001
Replicase polyprotein 1ab0112
lysosomal alpha-glucosidase preproprotein2002
NPC intracellular cholesterol transporter 1 precursor1001
vitamin D3 receptor isoform VDRA2002
histone deacetylase 9 isoform 31001
pyruvate kinase PKM isoform a1001
ras-related protein Rab-9A1001
nuclear factor erythroid 2-related factor 2 isoform 12002
nuclear receptor ROR-gamma isoform 12002
peripheral myelin protein 222002
ATP-binding cassette sub-family C member 30101
Multidrug resistance-associated protein 40101
Bile salt export pump0101
Interferon beta2002
HLA class I histocompatibility antigen, B alpha chain 1001
Transthyretin0123
Cellular tumor antigen p531001
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
Endothelin receptor type B1001
Endothelin-1 receptor1001
Inhibitor of nuclear factor kappa-B kinase subunit epsilon0101
Inositol hexakisphosphate kinase 11001
Canalicular multispecific organic anion transporter 10101
ATPase family AAA domain-containing protein 51001
Ataxin-21001
G-protein coupled receptor 350123
Serine/threonine-protein kinase TBK10101
cytochrome P450 2C9, partial1001
Carbonic anhydrase 10104
Carbonic anhydrase 20104
Neutral amino acid transporter A0101
Neutral amino acid transporter B(0)0101
Carbonic anhydrase-like protein, putative0003
Amino acid transporter0101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE3003
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Chain A, Ferritin light chain1001
phosphopantetheinyl transferase2002
aldehyde dehydrogenase 1 family, member A12002
arylsulfatase A1001
Bloom syndrome protein isoform 12002
cytochrome P450 2C19 precursor2002
lethal factor (plasmid)2002
lamin isoform A-delta102002
Metabotropic glutamate receptor 60011
Excitatory amino acid transporter 40101
Glutamate transporter homolog0011
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase0101
5-hydroxytryptamine receptor 1D0001
Glutamate receptor ionotropic, NMDA 1 0315
Excitatory amino acid transporter 10101
Excitatory amino acid transporter 20101
Excitatory amino acid transporter 30101
Glutamate receptor ionotropic, NMDA 2A 0315
Glutamate receptor ionotropic, NMDA 2B0315
Glutamate receptor ionotropic, NMDA 2C0315
Metabotropic glutamate receptor 10011
Metabotropic glutamate receptor 20011
Glutamate receptor ionotropic, NMDA 2D0315
Glutamate receptor ionotropic, NMDA 3B0315
Carbonic anhydrase 40001
Glutamate receptor ionotropic, NMDA 3A0315
Chain A, Avidin0011
Chain A, Protein (streptavidin)0011
Chain B, Protein (streptavidin)0011
Chain A, Streptavidin0011
Chain D, Streptavidin0011
Chain A, Streptavidin0011
Chain D, Streptavidin0011
Chain A, Streptavidin0011
Chain D, Streptavidin0011
Chain A, Streptavidin Complex With Biotin0011
Chain D, Circularly Permuted Core-streptavidin E51/a460011
Chain A, Core-streptavidin0011
Chain D, Core-streptavidin0011
Chain A, Core-streptavidin0011
Chain D, Core-streptavidin0011
Chain A, Core-streptavidin0011
Chain D, Core-streptavidin0011
Chain A, Core-streptavidin0011
Chain D, Core-streptavidin0011
Chain A, Avidin0011
Chain A, Streptavidin0011
Chain B, Streptavidin0011
Chain A, Streptavidin0011
Chain B, Streptavidin0011
Chain A, JmjC domain-containing histone demethylation protein 3A2002
apical membrane antigen 1, AMA11001
nonstructural protein 10101
green fluorescent protein, partial0101
insulin-degrading enzyme isoform 10011
Streptavidin0011
Receptor-type tyrosine-protein phosphatase beta0001
Fucose-binding lectin PA-IIL0202
CD209 antigen0303
IDH11001
chromobox protein homolog 12002
importin subunit beta-1 isoform 12002
snurportin-12002
DNA polymerase kappa isoform 13003
histone acetyltransferase KAT2A isoform 11001
Beta-galactosidase0101
Lipopolysaccharide heptosyltransferase 10101
PA-I galactophilic lectin0011
Jacalin0011
Spike glycoprotein1012
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 10203
Proton-coupled amino acid transporter 10101
Serine racemase0101
Olfactory receptor 51E20011
Sodium- and chloride-dependent glycine transporter 20101
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
Chain A, Transthyretin0011
Chain A, Transthyretin0011
Chain A, Transthyretin0011
Chain A, Transthyretin0011
Chain B, Transthyretin0011
Chain A, Transthyretin0011
Chain B, Transthyretin0011
Chain A, Casein kinase II subunit alpha0101
Chain A, Casein kinase II subunit alpha0101
Chain A, Casein Kinase Ii Subunit Alpha0101
Genome polyprotein 0101
histidine kinase 0101
BRCA11001
15-lipoxygenase, partial1001
WRN1001
integrase, partial0101
lens epithelium-derived growth factor p750101
ATAD5 protein, partial1001
GLS protein1001
TDP1 protein1001
Microtubule-associated protein tau1001
Smad31001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
thyroid stimulating hormone receptor1001
cystic fibrosis transmembrane conductance regulator ATP-binding cassette sub-family C member 70001
Neuraminidase 0202
67.9K protein1001
bromodomain adjacent to zinc finger domain 2B1001
P531001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
Spike glycoprotein0011
cytochrome P450 2D6 isoform 11001
galactokinase1001
cellular tumor antigen p53 isoform a1001
polyunsaturated fatty acid lipoxygenase ALOX121001
cytochrome P450 2C9 precursor1001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
thyroid hormone receptor beta isoform a2002
nuclear factor erythroid 2-related factor 2 isoform 21001
glycogen synthase kinase-3 beta isoform 10011
DNA polymerase beta1001
flap endonuclease 11001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
GTP-binding nuclear protein Ran isoform 11001
DNA polymerase eta isoform 11001
DNA polymerase iota isoform a (long)1001
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
geminin1001
survival motor neuron protein isoform d1001
cytochrome P450 3A4 isoform 11001
muscleblind-like protein 1 isoform 11001
POsterior Segregation0011
Gamma-aminobutyric acid receptor subunit pi1001
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
Transmembrane protease serine 20011
Carbonic anhydrase 120102
Aldo-keto reductase family 1 member B100101
G2/mitotic-specific cyclin-B20101
Poly [ADP-ribose] polymerase tankyrase-10101
Rap guanine nucleotide exchange factor 31001
Cationic trypsin0101
Interstitial collagenase0101
Glucocorticoid receptor0001
Cytochrome P450 1A10202
Amyloid-beta precursor protein0101
Integrin beta-31001
Cytochrome P450 1A20101
Prostaglandin G/H synthase 10101
Cyclin-dependent kinase 10101
Chemotaxis protein CheA0101
Procathepsin L0011
Aldo-keto reductase family 1 member B10101
Tyrosine-protein kinase Yes0101
Seed linoleate 13S-lipoxygenase-10204
ATP-dependent translocase ABCB10101
Neutrophil elastase0202
72 kDa type IV collagenase0101
Stromelysin-10101
Integrin alpha-IIb1001
Poly [ADP-ribose] polymerase 10101
Polyunsaturated fatty acid 5-lipoxygenase0101
Enoyl-[acyl-carrier-protein] reductase [NADH] FabI0101
Replicase polyprotein 1a0011
Replicase polyprotein 1ab0011
Replicase polyprotein 1ab0112
Replicase polyprotein 1ab0112
Alpha-amylase 1A 0101
Androgen receptor0001
Sialidase0101
Serine/threonine-protein kinase pim-10101
Fatty acid synthase0101
Angiotensin-converting enzyme0101
G2/mitotic-specific cyclin-B10101
Tyrosinase0101
Matrix metalloproteinase-90101
Urease subunit alpha0101
Aldo-keto reductase family 1 member B10101
G2/mitotic-specific cyclin-B0101
Gamma-aminobutyric acid receptor subunit beta-11001
Polyunsaturated fatty acid lipoxygenase ALOX150101
Aldo-keto reductase family 1 member B10101
Glycogen synthase kinase-3 beta0101
Gamma-aminobutyric acid receptor subunit delta1001
Gamma-aminobutyric acid receptor subunit gamma-21001
Casein kinase II subunit alpha'0101
Gamma-aminobutyric acid receptor subunit alpha-51001
Gamma-aminobutyric acid receptor subunit alpha-31001
Amine oxidase [flavin-containing] A0101
Acetylcholinesterase0101
Carbonic anhydrase 40102
Gamma-aminobutyric acid receptor subunit gamma-11001
Gamma-aminobutyric acid receptor subunit alpha-21001
Sodium-dependent noradrenaline transporter 0011
Sodium-dependent dopamine transporter0011
Cyclin-dependent kinase 20101
Cruzipain0101
Amine oxidase [flavin-containing] B0101
Dipeptidyl peptidase 40101
Proteasome subunit beta type-50101
Gamma-aminobutyric acid receptor subunit alpha-41001
Gamma-aminobutyric acid receptor subunit gamma-31001
Cytosol aminopeptidase0101
ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 10101
Gamma-aminobutyric acid receptor subunit alpha-61001
Substance-P receptor0101
Prostaglandin G/H synthase 20101
Receptor-type tyrosine-protein kinase FLT30101
Peroxisome proliferator-activated receptor gamma0011
Alpha-synuclein0101
Macrophage metalloelastase0101
Homeobox protein Nkx-2.5 0101
Carbonic anhydrase 70102
Tyrosine-protein kinase SYK0112
Collagenase 30101
1-deoxy-D-xylulose 5-phosphate reductoisomerase0101
Histamine H2 receptor1001
Xanthine dehydrogenase/oxidase0202
Fatty acid synthase0101
Glycogen synthase kinase-3 alpha0101
Glycogen synthase kinase-3 beta0101
Death-associated protein kinase 10101
Mitogen-activated protein kinase 100101
Gamma-aminobutyric acid receptor subunit alpha-11001
Gamma-aminobutyric acid receptor subunit beta-31001
Gamma-aminobutyric acid receptor subunit beta-21001
Casein kinase II subunit beta0101
Casein kinase II subunit alpha0101
Urease subunit beta0101
Xanthine dehydrogenase/oxidase0203
Cyclin-dependent kinase 60101
Cyclin-dependent-like kinase 5 0101
Cyclin homolog0101
Lactoylglutathione lyase0101
Transcription factor GATA-4 0101
Cyclin-dependent kinase 5 activator 10101
Mitogen-activated protein kinase 140101
Cytochrome P450 1B10202
Carbonic anhydrase 30101
Substance-K receptor0101
Integrase 0101
Protein polybromo-10011
Casein kinase II subunit alpha 30101
Inositol polyphosphate multikinase0101
Histone-lysine N-methyltransferase SETD70101
G2/mitotic-specific cyclin-B30101
GABA theta subunit1001
Enoyl-acyl-carrier protein reductase 0202
3-oxoacyl-acyl-carrier protein reductase 0202
Beta-hydroxyacyl-ACP dehydratase precursor (Fatty acid synthesis protein)0202
Aurora kinase B0101
MAP kinase-interacting serine/threonine-protein kinase 10101
Angiotensin-converting enzyme 2 0011
Cyclin-dependent kinase 10101
Gamma-aminobutyric acid receptor subunit epsilon1001
Poly [ADP-ribose] polymerase tankyrase-20101
MAP kinase-interacting serine/threonine-protein kinase 20101
NADPH oxidase 40101
Dipeptidyl peptidase 30101
Inositol hexakisphosphate kinase 20101
Short transient receptor potential channel 50101
Broad substrate specificity ATP-binding cassette transporter ABCG20101
DNA topoisomerase 10101
Zinc finger protein mex-50011
Sialidase-20101
phosphoglycerate kinase1001
M1-family alanyl aminopeptidase0101
ATP-dependent phosphofructokinase1001
large T antigen0112
transcriptional regulator ERG isoform 31001
Alpha-mannosidase 2C10101
Chain A, AMINOPEPTIDASE0101
Chain A, AMINOPEPTIDASE0101
glucocorticoid receptor [Homo sapiens]1001
Voltage-dependent calcium channel subunit alpha-2/delta-10101
Plasma kallikrein0001
Alkaline phosphatase, tissue-nonspecific isozyme0101
Carbonic anhydrase 30001
Alkaline phosphatase, tissue-nonspecific isozyme 0101
Intestinal-type alkaline phosphatase0101
Intestinal-type alkaline phosphatase0101
5'-nucleotidase0101
Carbonic anhydrase 60001
Adenosine receptor A10001
Adenosine receptor A2a0001
Carbonic anhydrase 5A, mitochondrial0001
Carbonic anhydrase0001
Carbonic anhydrase0001
E3 ubiquitin-protein ligase XIAP0101
SLC16A10 protein0001
Carbonic anhydrase 90001
Carbonic anhydrase 0001
Carbonic anhydrase0001
Carbonic anhydrase0001
Large neutral amino acids transporter small subunit 1 0101
Carbonic anhydrase 0001
Carbonic anhydrase 130001
Monocarboxylate transporter 100001
Carbonic anhydrase 150001
Carbonic anhydrase 130001
Carbonic anhydrase 140001
Phospholipase A-2-activating protein0101
Carbonic anhydrase 5B, mitochondrial0001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]