Page last updated: 2024-09-27

Arginino Succinase Deficiency

Synonyms(14)

Synonym
Asauria
Inborn Error of Urea Synthesis, Arginino Succinic Type
Argininosuccinic Acidemia
Arginino Succinase Deficiency
Argininosuccinyl-Coa Lyase Deficiency
Arginosuccinase Deficiency
Argininosuccinate Lyase Deficiency
Urea Cycle Disorder, Arginino Succinase Type
Argininosuccinicaciduria
Argininosuccinase Deficiency
ASL Deficiency
Argininosuccinic Acid Lyase Deficiency
ASA Deficiency
Argininosuccinate Acidemia

Research Excerpts

Overview

ExcerptReference
"Argininosuccinate lyase deficiency is not itself a cause for increased CDT values."( Arndt, T; Gressner, A; Herwig, J; Meier, U; Sewell, AC, 2006)
"Argininosuccinate lyase deficiency is a urea cycle disorder which can present in the neonatal period with hyperammonemic encephalopathy, or later in childhood with episodic vomiting, growth and developmental delay."( Ficicioglu, C; Mandell, R; Shih, VE, 2009)

Treatment

ExcerptReference
"However, in patients with ASL deficiency, the development of neurological symptoms seems to be inevitable in spite of careful treatment and avoidance of hyperammonaemia."( Keskinen, P; Salo, M; Siitonen, A, 2008)

Research

Studies (120)

TimeframeStudies, This Condition (%)All Conditions %
pre-199055 (45.83)23.3326
1990's15 (12.50)12.5806
2000's16 (13.33)18.1394
2010's25 (20.83)28.8240
2020's9 (7.50)9.53
DrugIndicatedRelationship StrengthStudiesTrials
adipic acid0low10
ammonium hydroxide0medium431
benzoic acid0low10
carbamates0low10
carbamyl phosphate0low10
citric acid, anhydrous0low20
hydrogen sulfide0low10
creatine0low30
lactic acid0low10
dimethyl sulfoxide0low10
glutaric acid0low10
glycine0low30
glycerol0low10
glycocyamine0low20
methanol0low10
nitric acid0medium11
nitrites0low10
orotic acid0low30
pteridines0low10
uric acid0low10
urea0medium431
4-phenylbutyric acid0low10
alanine0low30
aspartic acid0low20
glutamine0low50
lysine0low20
leucine0low20
fluocinolone acetonide0low10
ornithine0low80
histidine0low10
arginine0medium541
acetonitrile0low10
citrulline0low260
isovaleric acid0low10
molybdenum0low10
tetradecanoylphorbol acetate0low10
transferrin0low10
potassium phosphate0low10
phenylacetylglutamine0low10
phorbols0low10
atropine0low10
mevalonic acid0low10
tretinoin0low10
sodium benzoate0low30
vitamin k semiquinone radical0low10
fumarates0low10
glycerol phenylbutyrate0low10
exudates0low10
cyclic gmp0low10
molybdenum cofactor0low10

Protein Targets (418)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE5005
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain A, AROMATIC AMINO ACID AMINOTRANSFERASE0011
Chain B, AROMATIC AMINO ACID AMINOTRANSFERASE0011
mitogen-activated protein kinase 12002
survival motor neuron protein isoform d2002
Histone deacetylase 30202
Histone deacetylase 40202
Histone deacetylase 10202
Histone deacetylase 70202
Histone deacetylase 20202
Polyamine deacetylase HDAC100101
Histone deacetylase 11 0101
Histone deacetylase 80202
NAD-dependent protein deacylase sirtuin-5, mitochondrial0101
Histone deacetylase 60202
Histone deacetylase 90202
Histone deacetylase 50202
pregnane X receptor2002
retinoic acid nuclear receptor alpha variant 1110011
nuclear factor erythroid 2-related factor 2 isoform 18008
RAR-related orphan receptor gamma6006
GLI family zinc finger 3100010
AR protein8008
cytochrome P450 family 3 subfamily A polypeptide 44004
glucocorticoid receptor [Homo sapiens]7007
estrogen nuclear receptor alpha9009
cytochrome P450 2D62002
peroxisome proliferator-activated receptor delta4004
thyroid hormone receptor beta isoform a4004
histone acetyltransferase KAT2A isoform 14004
lethal factor (plasmid)5005
lamin isoform A-delta106006
Cellular tumor antigen p536006
Solute carrier family 22 member 200404
Solute carrier family 22 member 60404
Chain A, TYROSYL-DNA PHOSPHODIESTERASE4004
Carbonic anhydrase 10409
Carbonic anhydrase 20409
Alanine racemase, biosynthetic0001
5-hydroxytryptamine receptor 1D0003
Glutamate receptor ionotropic, NMDA 1 0416
Proton-coupled amino acid transporter 10506
Adenosine deaminase0001
Carbonic anhydrase 40003
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0033
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0033
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN0033
thioredoxin reductase4004
phosphopantetheinyl transferase4004
NFKB1 protein, partial1001
GLS protein3003
thyroid stimulating hormone receptor3003
alpha-galactosidase1001
euchromatic histone-lysine N-methyltransferase 26006
cytochrome P450 2C19 precursor2002
chromobox protein homolog 14004
flap endonuclease 13003
DNA polymerase iota isoform a (long)4004
muscarinic acetylcholine receptor M11001
Cytochrome P450 3A40012
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 phosphofructokinase3003
Chain A, Ferritin light chain3003
aldehyde dehydrogenase 1 family, member A16006
arylsulfatase A2002
Bloom syndrome protein isoform 13003
Metabotropic glutamate receptor 60011
Excitatory amino acid transporter 40101
Glutamate transporter homolog0011
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase0101
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
Carbonic anhydrase-like protein, putative0003
Glutamate receptor ionotropic, NMDA 2D0315
Glutamate receptor ionotropic, NMDA 3B0315
Glutamate receptor ionotropic, NMDA 3A0315
Chain A, 2-oxoglutarate Oxygenase3003
nuclear receptor subfamily 1, group I, member 37007
retinoid X nuclear receptor alpha7007
pregnane X nuclear receptor5005
cystic fibrosis transmembrane conductance regulator0101
DNA polymerase beta1001
short transient receptor potential channel 6 isoform 10011
Solute carrier family 22 member 1 0101
ATP-binding cassette sub-family C member 30202
Multidrug resistance-associated protein 40203
5-hydroxytryptamine receptor 40202
Bile salt export pump0303
Muscarinic acetylcholine receptor M20216
Muscarinic acetylcholine receptor M40215
Muscarinic acetylcholine receptor M10215
Muscarinic acetylcholine receptor M30215
Muscarinic acetylcholine receptor M40215
Muscarinic acetylcholine receptor M50215
Muscarinic acetylcholine receptor M50215
Muscarinic acetylcholine receptor M20216
Muscarinic acetylcholine receptor M10216
Muscarinic acetylcholine receptor M10001
Muscarinic acetylcholine receptor M30215
Alpha-1D adrenergic receptor0202
5-hydroxytryptamine receptor 2C0202
Muscarinic acetylcholine receptor M40101
Histamine H2 receptor0001
5-hydroxytryptamine receptor 70101
Reverse transcriptase/RNaseH 0001
Muscarinic acetylcholine receptor0112
Canalicular multispecific organic anion transporter 10202
Chain A, Oxygen-insensitive Nad(p)h Nitroreductase0101
Chain B, Oxygen-insensitive Nad(p)h Nitroreductase0101
Luciferase2002
acetylcholinesterase3003
estrogen receptor 2 (ER beta)5005
estrogen-related nuclear receptor alpha8008
Polyphenol oxidase 20101
D-amino-acid oxidase0011
Neuronal acetylcholine receptor subunit alpha-40101
Neuronal acetylcholine receptor subunit beta-20101
Tyrosinase0101
D-amino-acid oxidase0213
Metabotropic glutamate receptor 50011
Alpha-glucosidase MAL120101
Monocarboxylate transporter 10001
Beta-lactamase 0112
Nicotinate phosphoribosyltransferase0101
D-aspartate oxidase0101
Serine racemase0202
Carbonic anhydrase 40506
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, Proto-oncogene Tyrosine-protein Kinase Src0101
Chain A, N5-carboxyaminoimidazole ribonucleotide mutase0011
Chain B, N5-carboxyaminoimidazole ribonucleotide mutase0011
Chain A, N5-carboxyaminoimidazole ribonucleotide mutase0011
Chain B, N5-carboxyaminoimidazole ribonucleotide mutase0011
Chain A, JmjC domain-containing histone demethylation protein 3A1001
farnesoid X nuclear receptor2002
peroxisome proliferator activated receptor gamma3003
hepatocyte nuclear factor 4-alpha isoform 20101
perilipin-50101
perilipin-10101
1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a0101
Beta-lactamase0101
Proto-oncogene tyrosine-protein kinase Src0101
3-dehydroquinate dehydratase0011
ATP-citrate synthase 0001
Ribonuclease T0001
Cell death-related nuclease 40001
3-dehydroquinate dehydratase0011
Prolyl 4-hydroxylase0101
Alpha-ketoglutarate-dependent dioxygenase FTO0101
N(G),N(G)-dimethylarginine dimethylaminohydrolase 10101
General amino-acid permease GAP10001
Sodium- and chloride-dependent creatine transporter 10101
Phosphodiesterase 0101
Multidrug resistance-associated protein 50001
cGMP-inhibited 3',5'-cyclic phosphodiesterase B0101
cGMP-inhibited 3',5'-cyclic phosphodiesterase A0101
Cereblon isoform 40202
vitamin D (1,25- dihydroxyvitamin D3) receptor3003
Insulin-like growth factor-binding protein 50011
Choline O-acetyltransferase 0101
Protein cereblon0202
SMAD family member 21001
SMAD family member 31001
TDP1 protein2002
Smad31001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)2002
progesterone receptor2002
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a2002
thyroid stimulating hormone receptor3003
nuclear receptor subfamily 1, group I, member 21001
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
Glucocorticoid receptor0202
Glycine receptor subunit alpha-10202
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
ATPase family AAA domain-containing protein 52002
Ataxin-22002
Chain A, Glutamine Binding Protein0011
15-lipoxygenase, partial1001
peripheral myelin protein 22 isoform 11001
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
Neutral amino acid transporter A0101
Asc-type amino acid transporter 10101
Neutral amino acid transporter B(0)0101
Amino acid transporter0101
Chain A, Protein (aspartate Aminotransferase)0011
Chain A, Aspartate Aminotransferase0011
thyroid hormone receptor beta isoform 24004
Solute carrier family 22 member 60103
Solute carrier family 22 member 70001
Chain B, EUKARYOTIC TRANSLATION INITIATION FACTOR 4E0011
activating transcription factor 63003
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 10303
Olfactory receptor 51E20022
Sodium- and chloride-dependent glycine transporter 20101
Gamma-aminobutyric acid receptor subunit pi2103
Gamma-aminobutyric acid receptor subunit beta-12103
Gamma-aminobutyric acid receptor subunit delta2103
Gamma-aminobutyric acid receptor subunit gamma-22103
Gamma-aminobutyric acid receptor subunit alpha-52103
Gamma-aminobutyric acid receptor subunit alpha-32103
Gamma-aminobutyric acid receptor subunit gamma-12103
Gamma-aminobutyric acid receptor subunit alpha-22103
Gamma-aminobutyric acid receptor subunit alpha-42103
Gamma-aminobutyric acid receptor subunit gamma-32103
Gamma-aminobutyric acid receptor subunit alpha-62103
Gamma-aminobutyric acid receptor subunit alpha-12103
Gamma-aminobutyric acid receptor subunit beta-32103
Gamma-aminobutyric acid receptor subunit beta-22103
GABA theta subunit2103
Gamma-aminobutyric acid receptor subunit epsilon2103
Chain A, HISTIDINE-BINDING PROTEIN0011
ATAD5 protein, partial1001
cytochrome P450 3A4 isoform 12002
Carbonic anhydrase 120001
Plasma kallikrein0001
Carbonic anhydrase 30001
Histidine-binding periplasmic protein0011
Carbonic anhydrase 60203
Adenosine receptor A10001
Adenosine receptor A2a0001
Carbonic anhydrase 5A, mitochondrial0304
Carbonic anhydrase0304
Carbonic anhydrase 70203
Carbonic anhydrase0001
Glutaminyl-peptide cyclotransferase0101
Carbonic anhydrase 90304
Carbonic anhydrase 0001
Carbonic anhydrase0203
Carbonic anhydrase0102
Carbonic anhydrase 0001
Carbonic anhydrase 130001
Carbonic anhydrase 150102
Carbonic anhydrase 130203
Carbonic anhydrase 140001
Carbonic anhydrase 5B, mitochondrial0203
Carbonic anhydrase 0202
Carbonic anhydrase0202
Carbonic anhydrase, alpha family 0101
Transient receptor potential cation channel subfamily A member 10011
v-jun sarcoma virus 17 oncogene homolog (avian)3003
cellular tumor antigen p53 isoform a1001
Integrin beta-31001
Integrin alpha-IIb1001
Chain A, AMINOPEPTIDASE0101
Chain A, AMINOPEPTIDASE0101
Chain A, Leucine Aminopeptidase0101
Alkaline phosphatase, tissue-nonspecific isozyme0101
Intestinal-type alkaline phosphatase0101
Phospholipase A-2-activating protein0101
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, ARGINASE 10101
Chain A, Arginase 10101
Chain A, ARGINASE 10101
Chain A, L-ARGININE\\:GLYCINE AMIDINOTRANSFERASE0101
heat shock protein beta-12002
Solute carrier family 2, facilitated glucose transporter member 90224
Microtubule-associated protein tau2002
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
nuclear receptor ROR-gamma isoform 12002
DNA polymerase kappa isoform 12002
Serine/threonine-protein kinase D30011
Protein kinase C gamma type0112
Protein kinase C beta type0112
Luciferin 4-monooxygenase0011
Protein kinase C alpha type0112
Beta-1 adrenergic receptor0101
Protein kinase C eta type0011
Protein kinase C iota type0011
Protein kinase C epsilon type0112
Protein kinase C theta type0011
Protein kinase C zeta type0011
Protein kinase C delta type0112
Serine/threonine-protein kinase D10011
Ras guanyl-releasing protein 30011
Chain A, Nuclear Receptor ROR-beta0101
Chain A, Beta-lactamase2002
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
Chain A, Cruzipain1001
hypoxia-inducible factor 1 alpha subunit1001
USP1 protein, partial2002
thioredoxin glutathione reductase2002
regulator of G-protein signaling 41001
nonstructural protein 11001
G1001
Parkin1001
bromodomain adjacent to zinc finger domain 2B1001
aryl hydrocarbon receptor1001
thyrotropin-releasing hormone receptor1001
Caspase-71001
vitamin D3 receptor isoform VDRA2002
nuclear factor erythroid 2-related factor 2 isoform 21001
caspase-31001
geminin2002
peripheral myelin protein 222002
M-phase phosphoprotein 81001
Voltage-dependent calcium channel gamma-2 subunit1001
Ornithine decarboxylase0001
Interferon beta1001
HLA class I histocompatibility antigen, B alpha chain 1001
Amyloid-beta precursor protein0101
Cytochrome P450 1A20011
Ornithine decarboxylase0001
60 kDa chaperonin0101
Adenosine receptor A30202
Retinoic acid receptor alpha0227
Cytochrome P450 2D60011
60 kDa heat shock protein, mitochondrial0101
Retinoic acid receptor beta0227
Retinoic acid receptor alpha0123
Cytochrome P450 2C9 0011
Retinoic acid receptor gamma 0227
Alpha-1B adrenergic receptor0202
Alpha-1A adrenergic receptor0101
Retinoic acid receptor gamma0123
5-hydroxytryptamine receptor 1A0101
Glutamate receptor 21001
Retinoic acid receptor RXR-alpha0224
Retinoic acid receptor beta0123
Cellular retinoic acid-binding protein 20011
Alpha-1D adrenergic receptor0101
Mitogen-activated protein kinase 10101
Retinoic acid receptor RXR-alpha0123
Retinoic acid receptor RXR-beta0224
Retinoic acid receptor RXR-beta0123
Retinoic acid receptor RXR-gamma0123
Indoleamine 2,3-dioxygenase 10101
Cytochrome P450 2C190011
Nuclear receptor ROR-alpha0101
Alpha-synuclein0101
Cellular retinoic acid-binding protein 10102
5-hydroxytryptamine receptor 2B0202
Alpha-1A adrenergic receptor0202
Retinoic acid receptor RXR-gamma0224
Nuclear receptor ROR-gamma0112
10 kDa heat shock protein, mitochondrial0101
Cellular retinoic acid-binding protein 10011
Peptidyl-prolyl cis-trans isomerase NIMA-interacting 10213
Thiosulfate sulfurtransferase0101
60 kDa chaperonin 0101
10 kDa chaperonin 0101
Indoleamine 2,3-dioxygenase 20101
Inositol hexakisphosphate kinase 11001
Nuclear receptor ROR-beta0101
cytochrome P450 2C9, partial1001
caspase 7, apoptosis-related cysteine protease1001
caspase-31001
Histone H2A.x1001
Rap guanine nucleotide exchange factor 32002
Urease subunit alpha0101
Urease subunit beta0101
Chain A, Glycogen phosphorylase, liver form0011
Chain A, glycogen phosphorylase, liver form0011
Chain A, Glycogen phosphorylase, liver form0011
Chain A, Glycogen phosphorylase, liver form0011
Solute carrier family 22 member 80101
Guanine deaminase0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]