创建日期
2005-11-16 15:48:42 UTC
更新日期
2021-09-14 15:36:50 UTC
二级访问
HMDB0001006
HMDB00052
HMDB01006
描述
Arginosuccinic acid is a basic amino acid. Some cells synthesize it from citrulline, aspartic acid and use it as a precursor for arginine in the urea cycle or Citrulline-NO cycle. The enzyme that catalyzes the reaction is argininosuccinate synthetase. Argininosuccinic acid is a precursor to fumarate in the citric acid cycle via argininosuccinate lyase. Defects in the argininosuccinate lyase enzyme can lead to argininosuccinate lyase deficiency, which is an inborn error of metabolism. Argininosuccinate (ASA) lyase deficiency results in defective cleavage of ASA. This leads to an accumulation of ASA in cells and an excessive excretion of ASA in urine (argininosuccinic aciduria). In virtually all respects, this disorder shares the characteristics of other urea cycle defects. The most important characteristic of ASA lyase deficiency is its propensity to cause hyperammonemia in affected individuals. ASA in affected individuals is excreted by the kidney at a rate practically equivalent to the glomerular filtration rate (GFR). Whether ASA itself causes a degree of toxicity due to hepatocellular accumulation is unknown; such an effect could help explain hyperammonemia development in affected individuals. Regardless, the name of the disease is derived from the rapid clearance of ASA in urine, although elevated levels of ASA can be found in plasma. ASA lyase deficiency is associated with high mortality and morbidity rates. Symptoms of ASA lyase deficiency include anorexia, irritability rapid breathing, lethargy and vomiting. Extreme symptoms include coma and cerebral edema.
同义词
1:2-(Nomega-L-arginino)succinate
2:L-Argininosuccinate
3:L-Argininosuccinic acid
4:L-Arginosuccinic acid
5:2-(Nomega-L-arginino)succinic acid
6:L-Arginosuccinate
7:Argininosuccinate
8:2-(N(Omega)-L-arginine)succinate
9:2-(N(Omega)-L-arginine)succinic acid
10:2-(N(Omega)-L-arginino)succinate
11:2-(N(Omega)-L-arginino)succinic acid
12:2-(Nw-l-arginino)butanedioate
13:2-(Nw-l-arginino)butanedioic acid
14:Arginosuccinate
15:Arginosuccinic acid
16:ASA
17:N(Omega)-(L-arginino)succinate
18:N(Omega)-(L-arginino)succinic acid
19:N-(((4-Amino-4-carboxybutyl)amino)iminomethyl)-L-aspartate
20:N-(((4-Amino-4-carboxybutyl)amino)iminomethyl)-L-aspartic acid
21:N-(L-Arginino) succinate
22:N-(L-Arginino) succinic acid
23:N-(L-Arginino)succinate
24:N-(L-Arginino)succinic acid
25:N-[(4-Amino-4-carboxybutyl)amidino]-L-aspartate
26:N-[(4-Amino-4-carboxybutyl)amidino]-L-aspartic acid
27:N-[[(4-Amino-4-carboxybutyl)amino]iminomethyl]-L-aspartate
28:N-[[(4-Amino-4-carboxybutyl)amino]iminomethyl]-L-aspartic acid
29:Acid, argininosuccinic
30:N-(4-Amino-4-carboxybutyl)amidino-L-aspartic acid
化学名称
(2S)-2-{N'-[(4S)-4-amino-4-carboxybutyl]carbamimidamido}butanedioic acid
传统名称
argininosuccinic acid
代谢物结构字符串
N[C@@H](CCCNC(=N)N[C@@H](CC(O)=O)C(O)=O)C(O)=O
inchi标识符
InChI=1S/C10H18N4O6/c11-5(8(17)18)2-1-3-13-10(12)14-6(9(19)20)4-7(15)16/h5-6H,1-4,11H2,(H,15,16)(H,17,18)(H,19,20)(H3,12,13,14)/t5-,6-/m0/s1
印记键
KDZOASGQNOPSCU-WDSKDSINSA-N
分类学
description: belongs to the class of organic compounds known as aspartic acid and derivatives. Aspartic acid and derivatives are compounds containing an aspartic acid or a derivative thereof resulting from reaction of aspartic acid at the amino group or the carboxy group, or from the replacement of any hydrogen of glycine by a heteroatom.
description:Aspartic acid and derivatives
kingdom:Organic compounds
super_class:Organic acids and derivatives
class:Carboxylic acids and derivatives
sub_class:Amino acids, peptides, and analogues
molecular_framework:Aliphatic acyclic compounds
1:Amino acids
2:Carbonyl compounds
3:Carboximidamides
4:Carboxylic acids
5:Guanidines
6:Hydrocarbon derivatives
7:L-alpha-amino acids
8:Monoalkylamines
9:Organic oxides
10:Organopnictogen compounds
11:Propargyl-type 1,3-dipolar organic compounds
12:Tricarboxylic acids and derivatives
13:Aliphatic acyclic compound
14:Alpha-amino acid
15:Amine
16:Amino acid
17:Aspartic acid or derivatives
18:Carbonyl group
19:Carboximidamide
20:Carboxylic acid
21:Guanidine
22:Hydrocarbon derivative
23:L-alpha-amino acid
24:Organic 1,3-dipolar compound
25:Organic nitrogen compound
26:Organic oxide
27:Organic oxygen compound
28:Organonitrogen compound
29:Organooxygen compound
30:Organopnictogen compound
31:Primary aliphatic amine
32:Primary amine
33:Propargyl-type 1,3-dipolar organic compound
34:Tricarboxylic acid or derivatives
35:Other amino acids
本体论
term:Disposition
definition:A concept that describes the origin of a chemical, its location within an organism, or its route of exposure.
parent_id:
level:1
type:parent
term:Source
definition:Natural or synthetic origin of a chemical.
parent_id:7724
*level:2
type:parent
term:Endogenous
definition:
parent_id:7735
**level:3
type:child
term:Biological location
definition:The physiological origin within an organism, including anatomical compnents, biofluids and excreta.
parent_id:7724
*level:2
type:parent
term:Tissue and substructures
definition:An anatomical organizational level including multiple cells yet not comprising a complete organ .
parent_id:7725
**level:3
type:parent
term:Placenta
definition:An organ present in some vertebrates during embryonic gestation that surrounds the fetus and provides it with nutrients and oxygen, facilitates gas and waste exchange between the fetus and mother, and provides parasitic cloaking from the mother's immune system by excretion of neurokinin b. (nci).
parent_id:7729
***level:4
type:child
term:Organ and components
definition:An anatomical organizational level including multiple tissues or substructures, which enables a common biological function.
parent_id:7725
**level:3
type:parent
term:Prostate
definition:The male reproductive accessory gland that produces prostatic fluid and is located adjacent to or around the urethra distal to the urinary bladder in mammals. (nci).
parent_id:7727
***level:4
type:child
synonym:Prostate gland
term:Kidney
definition:The organs of the urinary tract located in the retroperitoneal cavity adjacent to the spine and composed of the renal cortex and the renal medulla. (nci).
parent_id:7727
***level:4
type:child
synonym:Kidneys
term:Biofluid and excreta
definition:A liquid, semi-solid or solid material originating in the body.
parent_id:7725
**level:3
type:parent
term:Urine
definition:Excretion in liquid state processed by the kidney.
parent_id:7731
***level:4
type:child
term:Blood
definition:A liquid tissue with the primary function of transporting oxygen and carbon dioxide (nci). it supplies the tissues with nutrients, removes waste products, and contains various components of the immune system defending the body against infection.
parent_id:7731
***level:4
type:child
term:Subcellular
definition:An anatomical organizational level including a component within a biological cell .
parent_id:7725
**level:3
type:parent
term:Cytoplasm
definition:The portion of the cell contained within the plasma membrane but excluding the nucleus.
parent_id:7730
***level:4
type:child
synonym:Cytoplasma
term:Process
definition:Biological or chemical events, or a series thereof, leading to a known function or end-product.
parent_id:
level:1
type:parent
term:Naturally occurring process
definition:Naturally-occurring molecular events or a series thereof, leading to a known function or end-product.
parent_id:7659
*level:2
type:parent
term:Biological process
definition:Biological or chemical events or a series thereof, leading to a known function or end-product within an organism.
parent_id:7660
**level:3
type:parent
term:Biochemical pathway
definition:A linked series of chemical reactions that occur in a defined order within or between organism cells, and lead to a known function or end product.
parent_id:7661
***level:4
type:parent
预测性质
1:
kind:logp
value:-3.25
source:ALOGPS
2:
kind:logs
value:-2.80
source:ALOGPS
3:
kind:solubility
value:0.46 g/L
source:ALOGPS
4:
kind:logp
value:-5.8
source:ChemAxon
5:
kind:pka_strongest_acidic
value:2.14
source:ChemAxon
6:
kind:pka_strongest_basic
value:12.39
source:ChemAxon
7:
kind:iupac
value:(2S)-2-{N'-[(4S)-4-amino-4-carboxybutyl]carbamimidamido}butanedioic acid
source:ChemAxon
8:
kind:average_mass
value:290.2731
source:ChemAxon
9:
kind:mono_mass
value:290.122634328
source:ChemAxon
10:
kind:smiles
value:N[C@@H](CCCNC(=N)N[C@@H](CC(O)=O)C(O)=O)C(O)=O
source:ChemAxon
11:
kind:formula
value:C10H18N4O6
source:ChemAxon
12:
kind:inchi
value:InChI=1S/C10H18N4O6/c11-5(8(17)18)2-1-3-13-10(12)14-6(9(19)20)4-7(15)16/h5-6H,1-4,11H2,(H,15,16)(H,17,18)(H,19,20)(H3,12,13,14)/t5-,6-/m0/s1
source:ChemAxon
13:
kind:inchikey
value:KDZOASGQNOPSCU-WDSKDSINSA-N
source:ChemAxon
14:
kind:polar_surface_area
value:185.83
source:ChemAxon
15:
kind:refractivity
value:75.31
source:ChemAxon
16:
kind:polarizability
value:27.6
source:ChemAxon
17:
kind:rotatable_bond_count
value:9
source:ChemAxon
18:
kind:acceptor_count
value:10
source:ChemAxon
19:
kind:donor_count
value:7
source:ChemAxon
20:
kind:physiological_charge
value:-1
source:ChemAxon
21:
kind:formal_charge
value:0
source:ChemAxon
22:
kind:number_of_rings
value:0
source:ChemAxon
23:
kind:bioavailability
value:Yes
source:ChemAxon
24:
kind:rule_of_five
value:No
source:ChemAxon
25:
kind:ghose_filter
value:No
source:ChemAxon
26:
kind:veber_rule
value:No
source:ChemAxon
27:
kind:mddr_like_rule
value:No
source:ChemAxon
1:
type:Specdb::NmrOneD
spectrum_id:1054
2:
type:Specdb::NmrTwoD
spectrum_id:1112
3:
type:Specdb::CMs
spectrum_id:858
4:
type:Specdb::CMs
spectrum_id:11925
5:
type:Specdb::CMs
spectrum_id:37267
6:
type:Specdb::CMs
spectrum_id:134041
7:
type:Specdb::CMs
spectrum_id:141775
8:
type:Specdb::MsMs
spectrum_id:6191
9:
type:Specdb::MsMs
spectrum_id:6192
10:
type:Specdb::MsMs
spectrum_id:6193
11:
type:Specdb::MsMs
spectrum_id:6194
12:
type:Specdb::MsMs
spectrum_id:6195
13:
type:Specdb::MsMs
spectrum_id:437142
14:
type:Specdb::MsMs
spectrum_id:437143
15:
type:Specdb::MsMs
spectrum_id:437144
16:
type:Specdb::MsMs
spectrum_id:437145
17:
type:Specdb::MsMs
spectrum_id:437146
18:
type:Specdb::MsMs
spectrum_id:6196
19:
type:Specdb::MsMs
spectrum_id:6197
20:
type:Specdb::MsMs
spectrum_id:6198
21:
type:Specdb::MsMs
spectrum_id:6199
22:
type:Specdb::MsMs
spectrum_id:6200
23:
type:Specdb::MsMs
spectrum_id:6201
24:
type:Specdb::MsMs
spectrum_id:6202
25:
type:Specdb::MsMs
spectrum_id:6203
26:
type:Specdb::MsMs
spectrum_id:6204
27:
type:Specdb::MsMs
spectrum_id:6205
28:
type:Specdb::MsMs
spectrum_id:6206
29:
type:Specdb::MsMs
spectrum_id:6207
30:
type:Specdb::MsMs
spectrum_id:6208
31:
type:Specdb::MsMs
spectrum_id:445566
32:
type:Specdb::MsMs
spectrum_id:445567
生物学性质
1:
cellular:(1):Cytoplasm
2:
biospecimen:(1):Blood
biospecimen:(2):Feces
biospecimen:(3):Urine
3:
tissue:(1):Kidney
tissue:(2):Placenta
tissue:(3):Prostate
4:
[1]:
name:Arginine and proline metabolism
smpdb_id:
kegg_map_id:map00330
[2]:
name:Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)
smpdb_id:SMP00362
kegg_map_id:
[3]:
name:Argininemia
smpdb_id:SMP00357
kegg_map_id:
[4]:
name:Argininosuccinic Aciduria
smpdb_id:SMP00003
kegg_map_id:
[5]:
name:Aspartate Metabolism
smpdb_id:SMP00067
kegg_map_id:map00250
[6]:
name:Canavan Disease
smpdb_id:SMP00175
kegg_map_id:
[7]:
name:Carbamoyl Phosphate Synthetase Deficiency
smpdb_id:SMP00002
kegg_map_id:
[8]:
name:Citrullinemia Type I
smpdb_id:SMP00001
kegg_map_id:
[9]:
name:Creatine deficiency, guanidinoacetate methyltransferase deficiency
smpdb_id:SMP00504
kegg_map_id:
[10]:
name:Guanidinoacetate Methyltransferase Deficiency (GAMT Deficiency)
smpdb_id:SMP00188
kegg_map_id:
[11]:
name:Hyperornithinemia with gyrate atrophy (HOGA)
smpdb_id:SMP00505
kegg_map_id:
[12]:
name:Hyperornithinemia-hyperammonemia-homocitrullinuria [HHH-syndrome]
smpdb_id:SMP00506
kegg_map_id:
[13]:
name:Hyperprolinemia Type I
smpdb_id:SMP00361
kegg_map_id:
[14]:
name:Hyperprolinemia Type II
smpdb_id:SMP00360
kegg_map_id:
[15]:
name:Hypoacetylaspartia
smpdb_id:SMP00192
kegg_map_id:
[16]:
name:L-arginine:glycine amidinotransferase deficiency
smpdb_id:SMP00507
kegg_map_id:
[17]:
name:Ornithine Aminotransferase Deficiency (OAT Deficiency)
smpdb_id:SMP00363
kegg_map_id:
[18]:
name:Ornithine Transcarbamylase Deficiency (OTC Deficiency)
smpdb_id:SMP00205
kegg_map_id:
[19]:
name:Prolidase Deficiency (PD)
smpdb_id:SMP00207
kegg_map_id:
[20]:
name:Prolinemia Type II
smpdb_id:SMP00208
kegg_map_id:
[21]:
name:Urea Cycle
smpdb_id:SMP00059
kegg_map_id:map00330
正常浓度
1:
biospecimen:Blood
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Both
subject_condition:Normal
2:
biospecimen:Blood
concentration_value:<2
concentration_units:uM
subject_age:Infant (0-1 year old)
subject_sex:Male
subject_condition:Normal
3:
biospecimen:Blood
concentration_value:0-5
concentration_units:uM
subject_age:Newborn (0-30 days old)
subject_sex:Both
subject_condition:Normal
4:
biospecimen:Blood
concentration_value:0-5
concentration_units:uM
subject_age:Infant (1 - 3 months old)
subject_sex:Both
subject_condition:Normal
5:
biospecimen:Blood
concentration_value:0-5
concentration_units:uM
subject_age:Children (3 months - 6 years old)
subject_sex:Both
subject_condition:Normal
6:
biospecimen:Blood
concentration_value:0-5
concentration_units:uM
subject_age:Children (6 - 18 years old)
subject_sex:Both
subject_condition:Normal
7:
biospecimen:Blood
concentration_value:0-1
concentration_units:uM
subject_age:Children (1 - 13 years old)
subject_sex:Both
subject_condition:Normal
8:
biospecimen:Feces
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Both
subject_condition:Normal
9:
biospecimen:Urine
concentration_value:<2.71
concentration_units:umol/mmol creatinine
subject_age:Children (1-13 years old)
subject_sex:Not Specified
subject_condition:Normal
10:
biospecimen:Urine
concentration_value:<7.81
concentration_units:umol/mmol creatinine
subject_age:Adolescent (13-18 years old)
subject_sex:Not Specified
subject_condition:Normal
11:
biospecimen:Urine
concentration_value:<4
concentration_units:umol/mmol creatinine
subject_age:Infant (0-1 year old)
subject_sex:Male
subject_condition:Normal
12:
biospecimen:Urine
concentration_value:0
concentration_units:umol/mmol creatinine
subject_age:Adult (>18 years old)
subject_sex:Both
subject_condition:Normal
13:
biospecimen:Urine
concentration_value:<1.70
concentration_units:umol/mmol creatinine
subject_age:Adult (>18 years old)
subject_sex:Not Specified
subject_condition:Normal
14:
biospecimen:Urine
concentration_value:<8.71
concentration_units:umol/mmol creatinine
subject_age:Infant (0-1 year old)
subject_sex:Not Specified
subject_condition:Normal
15:
biospecimen:Urine
concentration_value:<0.433
concentration_units:umol/mmol creatinine
subject_age:Not Specified
subject_sex:Not Specified
subject_condition:Normal
16:
biospecimen:Urine
concentration_value:<5.43
concentration_units:umol/mmol creatinine
subject_age:Children (1-13 years old)
subject_sex:Not Specified
subject_condition:Normal
17:
biospecimen:Urine
concentration_value:
concentration_units:
subject_age:Not Specified
subject_sex:Male
subject_condition:Normal
18:
biospecimen:Urine
concentration_value:<4.19
concentration_units:umol/mmol creatinine
subject_age:Children (1-13 years old)
subject_sex:Not Specified
subject_condition:Normal
19:
biospecimen:Urine
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Both
subject_condition:Normal
20:
biospecimen:Urine
concentration_value:0-99
concentration_units:umol/mmol creatinine
subject_age:Newborn (0-30 days old)
subject_sex:Both
subject_condition:Normal
异常浓度
1:
biospecimen:Blood
concentration_value:1515
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Male
patient_information:Argininosuccinic aciduria (ASL)
2:
biospecimen:Blood
concentration_value:300.0 (270.0-458.0)
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Female
patient_information:Argininosuccinyl-CoA lyase deficiency
3:
biospecimen:Urine
concentration_value:667
concentration_units:umol/mmol creatinine
patient_age:Infant (0-1 year old)
patient_sex:Male
patient_information:Argininosuccinic aciduria (ASL)
4:
biospecimen:Urine
concentration_value:0.65 (0.0-1.3)
concentration_units:umol/mmol creatinine
patient_age:Children (1-13 years old)
patient_sex:Both
patient_information:Argininemia
5:
biospecimen:Urine
concentration_value:1542.00
concentration_units:umol/mmol creatinine
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Argininosuccinic aciduria (ASL)
疾病参考
1:
name:Argininosuccinyl-CoA lyase deficiency
omim_id:
[1]:
reference_text:Renner C, Sewell AC, Bervoets K, Forster H, Bohles H: Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: a study in a 5-year-old patient under total parenteral nutrition. Eur J Pediatr. 1995 Nov;154(11):909-14.
pubmed_id:8582405
2:
name:Argininemia
omim_id:207800
[1]:
reference_text:Michels VV, Beaudet AL: Arginase deficiency in multiple tissues in argininemia. Clin Genet. 1978 Jan;13(1):61-7.
pubmed_id:624188
[2]:
reference_text:Naylor EW, Cederbaum SD: Urinary pyrimidine excretion in arginase deficiency. J Inherit Metab Dis. 1981;4(4):207-10.
pubmed_id:6796772
[3]:
reference_text:Brockstedt M, Smit LM, de Grauw AJ, van der Klei-van Moorsel JM, Jakobs C: A new case of hyperargininaemia: neurological and biochemical findings prior to and during dietary treatment. Eur J Pediatr. 1990 Feb;149(5):341-3.
pubmed_id:2311630
[4]:
reference_text:Schlune A, Vom Dahl S, Haussinger D, Ensenauer R, Mayatepek E: Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature. Amino Acids. 2015 Sep;47(9):1751-62. doi: 10.1007/s00726-015-2032-z. Epub 2015 Jun 27.
pubmed_id:26123990
[5]:
reference_text:Therrell BL, Currier R, Lapidus D, Grimm M, Cederbaum SD: Newborn screening for hyperargininemia due to arginase 1 deficiency. Mol Genet Metab. 2017 Aug;121(4):308-313. doi: 10.1016/j.ymgme.2017.06.003. Epub 2017 Jun 20.
pubmed_id:28659245
[6]:
reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)
pubmed_id:
3:
name:Argininosuccinic aciduria
omim_id:207900
[1]:
reference_text:Lee CR, Pollitt RJ: New derivatives of argininosuccinic acid in the urine of a patient with argininosuccinicaciduria. Biochem J. 1972 Jan;126(1):79-87.
pubmed_id:5075233
[2]:
reference_text:Gronwald W, Klein MS, Kaspar H, Fagerer SR, Nurnberger N, Dettmer K, Bertsch T, Oefner PJ: Urinary metabolite quantification employing 2D NMR spectroscopy. Anal Chem. 2008 Dec 1;80(23):9288-97. doi: 10.1021/ac801627c.
pubmed_id:19551947
[3]:
reference_text:Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A, Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, Tschiedel E, Wanders RJ, Koch HG: Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. J Inherit Metab Dis. 2002 Sep;25(5):399-410.
pubmed_id:12408190
[4]:
reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)
pubmed_id:
维基百科编号
Argininosuccinic acid
代谢途径的数据库编号
L-ARGININO-SUCCINATE
综合参考
Hagino, Koji; Nakanishi, Toshihide. Fermentative production of L-arginosuccinic acid. Jpn. Kokai Tokkyo Koho (1980), 3 pp.
一般参考
1:
protein_accession:HMDBP00585
name:Adenylosuccinate lyase
uniprot_id:P30566
gene_name:ADSL
protein_type:Enzyme
2:
protein_accession:HMDBP00656
name:Argininosuccinate synthase
uniprot_id:P00966
gene_name:ASS1
protein_type:Enzyme
3:
protein_accession:HMDBP00697
name:Argininosuccinate lyase
uniprot_id:P04424
gene_name:ASL
protein_type:Enzyme
4:
protein_accession:HMDBP02855
name:Cholinephosphotransferase 1
uniprot_id:Q8WUD6
gene_name:CHPT1
protein_type:Unknown
5:
protein_accession:HMDBP09114
name:Argininosuccinate synthase
uniprot_id:Q5T6L4
gene_name:ASS1
protein_type:Enzyme
蛋白质结合
1:
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