创建日期
2005-11-16 15:48:42 UTC
更新日期
2020-10-09 20:57:01 UTC
二级访问
HMDB00019
HMDB0004260
HMDB04260
名称
alpha-Ketoisovaleric acid
描述
alpha-Ketoisovaleric acid is an abnormal metabolite that arises from the incomplete breakdown of branched-chain amino acids. alpha-Ketoisovaleric acid is a neurotoxin, an acidogen, and a metabotoxin. A neurotoxin causes damage to nerve cells and nerve tissues. An acidogen is an acidic compound that induces acidosis, which has multiple adverse effects on many organ systems. A metabotoxin is an endogenously produced metabolite that causes adverse health effects at chronically high levels. Chronically high levels of alpha-ketoisovaleric acid are associated with maple syrup urine disease. MSUD is a metabolic disorder caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), leading to a buildup of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products (ketoacids) in the blood and urine. The symptoms of MSUD often show in infancy and lead to severe brain damage if untreated. MSUD may also present later depending on the severity of the disease. If left untreated in older individuals, during times of metabolic crisis, symptoms of the condition include uncharacteristically inappropriate, extreme, or erratic behaviour and moods, hallucinations, anorexia, weight loss, anemia, diarrhea, vomiting, dehydration, lethargy, oscillating hypertonia and hypotonia, ataxia, seizures, hypoglycemia, ketoacidosis, opisthotonus, pancreatitis, rapid neurological decline, and coma. In maple syrup urine disease, the brain concentration of branched-chain ketoacids can increase 10- to 20-fold. This leads to a depletion of glutamate and a consequent reduction in the concentration of brain glutamine, aspartate, alanine, and other amino acids. The result is a compromise of energy metabolism because of a failure of the malate-aspartate shuttle and a diminished rate of protein synthesis (PMID: 15930465). alpha-Ketoisovaleric acid is a keto-acid, which is a subclass of organic acids. Abnormally high levels of organic acids in the blood (organic acidemia), urine (organic aciduria), the brain, and other tissues lead to general metabolic acidosis. Acidosis typically occurs when arterial pH falls below 7.35. In infants with acidosis, the initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These can progress to heart, liver, and kidney abnormalities, seizures, coma, and possibly death. These are also the characteristic symptoms of untreated MSUD. Many affected children with organic acidemias experience intellectual disability or delayed development.
同义词
1:2-Keto-3-methylbutyric acid
2:2-Ketoisovaleric acid
3:2-Ketovaline
4:2-oxo-3-Methylbutanoic acid
5:2-oxo-3-Methylbutyric acid
6:2-Oxoisovaleric acid
7:3-Methyl-2-oxobutanoate
8:3-Methyl-2-oxobutyric acid
9:alpha-Keto-isovaleric acid
10:alpha-Ketovaline
11:alpha-oxo-beta-Methylbutyricacid
12:alpha-Oxoisovaleric acid
13:Dimethylpyruvic acid
14:Isopropylglyoxylic acid
15:2-oxo-3-Methylbutanoate
16:2-Oxoisovalerate
17:2-Oxoisopentanoate
18:2-Keto-3-methylbutyrate
19:2-Ketoisovalerate
20:2-oxo-3-Methylbutyrate
21:3-Methyl-2-oxobutanoic acid
22:3-Methyl-2-oxobutyrate
23:a-Keto-isovalerate
24:a-Keto-isovaleric acid
25:alpha-Keto-isovalerate
26:Α-keto-isovalerate
27:Α-keto-isovaleric acid
28:a-Ketovaline
29:Α-ketovaline
30:a-oxo-b-Methylbutyricacid
31:Α-oxo-β-methylbutyricacid
32:a-Oxoisovalerate
33:a-Oxoisovaleric acid
34:alpha-Oxoisovalerate
35:Α-oxoisovalerate
36:Α-oxoisovaleric acid
37:Dimethylpyruvate
38:Isopropylglyoxylate
39:2-Oxoisopentanoic acid
40:a-Ketoisovalerate
41:a-Ketoisovaleric acid
42:alpha-Ketoisovalerate
43:Α-ketoisovalerate
44:Α-ketoisovaleric acid
45:2-Ketoisvaleric acid
46:2-oxo-3-Methyl-butyrate
47:3-Methyl-2-oxo-butanoate
48:3-Methyl-2-oxo-butanoic acid
49:3-Methyl-2-oxo-butyrate
50:3-Methyl-2-oxo-butyric acid
51:3-Methyl-2-oxobutinoate
52:3-Methyl-2-oxobutinoic acid
53:a-Keto-b-methylbutyrate
54:a-Keto-b-methylbutyric acid
55:a-oxo-b-Methylbutyrate
56:a-oxo-b-Methylbutyric acid
57:alpha-Keto-beta-methylbutyrate
58:alpha-Keto-beta-methylbutyric acid
59:alpha-oxo-beta-Methylbutyrate
60:alpha-oxo-beta-Methylbutyric acid
61:Ketovaline
62:alpha-Ketoisopentanoic acid
63:alpha-Ketoisovaleric acid
化学名称
3-methyl-2-oxobutanoic acid
代谢物结构字符串
CC(C)C(=O)C(O)=O
inchi标识符
InChI=1S/C5H8O3/c1-3(2)4(6)5(7)8/h3H,1-2H3,(H,7,8)
印记键
QHKABHOOEWYVLI-UHFFFAOYSA-N
分类学
description: belongs to the class of organic compounds known as short-chain keto acids and derivatives. These are keto acids with an alkyl chain the contains less than 6 carbon atoms.
description:Short-chain keto acids and derivatives
kingdom:Organic compounds
super_class:Organic acids and derivatives
class:Keto acids and derivatives
sub_class:Short-chain keto acids and derivatives
molecular_framework:Aliphatic acyclic compounds
1:Alpha-hydroxy ketones
2:Alpha-keto acids and derivatives
3:Carboxylic acids
4:Hydrocarbon derivatives
5:Methyl-branched fatty acids
6:Monocarboxylic acids and derivatives
7:Organic oxides
8:Aliphatic acyclic compound
9:Alpha-hydroxy ketone
10:Alpha-keto acid
11:Branched fatty acid
12:Carbonyl group
13:Carboxylic acid
14:Carboxylic acid derivative
15:Fatty acyl
16:Hydrocarbon derivative
17:Ketone
18:Methyl-branched fatty acid
19:Monocarboxylic acid or derivatives
20:Organic oxide
21:Organic oxygen compound
22:Organooxygen compound
23:Short-chain keto acid
24:2-oxo monocarboxylic acid
25:Branched fatty acids
26:Branched fatty 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:Route of exposure
definition:A mean by which a chemical agent comes in contact with an organism, either under intended or unintended circumstances.
parent_id:7724
*level:2
type:parent
term:Enteral
definition:Chemical exposure via the alimentary canal (mouth to anus).
parent_id:7743
**level:3
type:parent
term:Ingestion
definition:Chemical exposure facilitated by entry through the mouth.
parent_id:7744
***level:4
type:child
synonym:Digestion
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:Food
definition:
parent_id:7735
**level:3
type:child
term:Biological
definition:A living organism (species or a higher taxonomy rank), in which a chemical can be found.
parent_id:7735
**level:3
type:parent
term:Animal
definition:A living organism belonging to the kingdom animalia. it feeds on organic matter, typically having specialized sense organs and nervous system and able to respond rapidly to stimuli.
parent_id:7736
***level:4
type:child
synonym:Fauna
term:Plant
definition:A living organism belonging to the kingdom plantea. typically, it grows in a permanent site, absorbs water and inorganic substances through its roots, and synthesizes nutrients in its leaves by photosynthesis using the green pigment chlorophyll. examples incude trees, shrubs, herbs, grasses, ferns, and mosses.
parent_id:7736
***level:4
type:parent
synonym:Flora
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:Biofluid and excreta
definition:A liquid, semi-solid or solid material originating in the body.
parent_id:7725
**level:3
type:parent
term:Saliva
definition:The watery fluid in the mouth made by the salivary glands. saliva moistens food to help digestion and it helps protect the mouth against infections. (nci).
parent_id:7731
***level:4
type:child
term:Feces
definition:The material discharged from the bowel during defecation. It consists of undigested food, intestinal mucus, epithelial cells, and bacteria.
parent_id:7731
***level:4
type:child
synonym:Fecal
synonym:Stool
synonym:Faecal
synonym:Faeces
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:Cerebrospinal fluid
definition:The fluid that is contained within the brain ventricles, the subarachnoid space and the central canal of the spinal cord. (nci).
parent_id:7731
***level:4
type:child
synonym:Csf
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:Membrane
definition:
parent_id:7730
***level:4
type:child
term:Mitochondria
definition:
parent_id:7730
***level:4
type:child
term:Cell membrane
definition:A cellular compartment that separates a cellВ interiorВ from its exterior.
parent_id:7730
***level:4
type:child
synonym:Cellular membrane
term:Cell and elements
definition:An anatomical organizational level comprising of a single cell (or a fragment in some exceptions). a cell is defined by its type or function. it is the smallest unit of living structure capable of independent existence, composed of a membrane-enclosed mass of protoplasm and containing a nucleus or nucleoid.
parent_id:7725
**level:3
type:parent
term:Extracellular
definition:The space external to the outermost structure of a cell.
parent_id:7732
***level:4
type:child
synonym:Extracellular region
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:Cellular process
definition:A biological process occurring within a cell or its surroundings.
parent_id:7661
***level:4
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
term:Role
definition:The purpose or function assumed by a chemical, either naturally or as intended by humans .
parent_id:
level:1
type:parent
term:Indirect biological role
definition:An indirect function of a chemical which affect the physiological state of any organism (apart from the source organism, if of biological source).
parent_id:7671
*level:2
type:parent
term:Neurotoxin
definition:A chemical substance that interferes with the normal functioning of the nervous system.
parent_id:7691
**level:3
type:child
synonym:Neurotoxic
synonym:Neurotoxic agent
term:Metabotoxin
definition:An endogenous metabolite that causes adverse health effects at chronically high levels.
parent_id:7691
**level:3
type:child
term:Acidogen
definition:An acidic chemical substance that induces acidosis, which has multiple adverse effects on many organ systems.
parent_id:7691
**level:3
type:child
term:Biological role
definition:The biological function of a chemical. the biological role answers the question how a chemical is involved in molecular processes in an organism. this can include biochemical effects of non-endogenous chemicals, which are also assigned an industrial application such as pharmaceuticals. the biological role is limited to cellular levls, and will not include role at system process level, such as a chemical which has a role in a disease.
parent_id:7671
*level:2
type:parent
term:Membrane stabilizer
definition:A chemical substance that supports the formation and maintenance of a structurally-sound and functioning cell or organelle membrane. Phospholipids form a bilayer and maintain the stability of the membrane structure together with proteins, and other lipids (i.e. cholesterol) which further strengthen it and decrease its permeability.
parent_id:7672
**level:3
type:child
synonym:Membrane stability agent
synonym:Membrane integrity agent
term:Energy source
definition:
parent_id:7672
**level:3
type:child
term:Energy storage
definition:A chemical substance which can be utilized for production of energy in the organism.
parent_id:7672
**level:3
type:child
term:Industrial application
definition:The assumed function of a chemical utilized by human.
parent_id:7671
*level:2
type:parent
term:Food and nutrition
definition:A chemical purpose related to manufacturing of food and nutrition products.
parent_id:7678
**level:3
type:child
term:Surfactant
definition:A chemical substance that has the ability to lower the surface tension of water or to reduce the interfacial tension between two immiscible substances. in the cspa consumer product ingredients dictionary, surfactants are classified on the basis of their ionic characteristics, as amphoteric, anionic, cationic, or nonionic; and functions, which are subdivided into the following major groups: surfactant - cleaning agent, surfactant - conditioning agent, surfactant - emulsifying agent, surfactant - foam booster , surfactant hydrotrop , surfactant - solubility agent, surfactant - suspending agent.
parent_id:7678
**level:3
type:child
synonym:Surface-active agent
term:Emulsifier
definition:Substances that promote the formation and stability of a suspension of fine particles of a liquid in another liquid.
parent_id:7678
**level:3
type:child
term:Pharmaceutical industry
definition:A pharmacologic activity for which a chemical substance is utilized owing to its biological role.
parent_id:7678
**level:3
type:parent
term:Pharmaceutical
definition:
parent_id:7679
***level:4
type:child
实验性质
1:
kind:melting_point
value:31.5 °C
source:
预测性质
1:
kind:logp
value:0.49
source:ALOGPS
2:
kind:logs
value:-0.59
source:ALOGPS
3:
kind:solubility
value:30.2 g/L
source:ALOGPS
4:
kind:logp
value:1.31
source:ChemAxon
5:
kind:pka_strongest_acidic
value:3.37
source:ChemAxon
6:
kind:pka_strongest_basic
value:-9.7
source:ChemAxon
7:
kind:iupac
value:3-methyl-2-oxobutanoic acid
source:ChemAxon
8:
kind:average_mass
value:116.1152
source:ChemAxon
9:
kind:mono_mass
value:116.047344122
source:ChemAxon
10:
kind:smiles
value:CC(C)C(=O)C(O)=O
source:ChemAxon
11:
kind:formula
value:C5H8O3
source:ChemAxon
12:
kind:inchi
value:InChI=1S/C5H8O3/c1-3(2)4(6)5(7)8/h3H,1-2H3,(H,7,8)
source:ChemAxon
13:
kind:inchikey
value:QHKABHOOEWYVLI-UHFFFAOYSA-N
source:ChemAxon
14:
kind:polar_surface_area
value:54.37
source:ChemAxon
15:
kind:refractivity
value:27.19
source:ChemAxon
16:
kind:polarizability
value:11.04
source:ChemAxon
17:
kind:rotatable_bond_count
value:2
source:ChemAxon
18:
kind:acceptor_count
value:3
source:ChemAxon
19:
kind:donor_count
value:1
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:Yes
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
生物学性质
1:
cellular:(1):Cytoplasm
cellular:(2):Extracellular
cellular:(3):Membrane
cellular:(4):Mitochondria
2:
biospecimen:(1):Blood
biospecimen:(2):Cerebrospinal Fluid (CSF)
biospecimen:(3):Feces
biospecimen:(4):Saliva
biospecimen:(5):Urine
3:
tissue:(1):Placenta
4:
[1]:
name:2-Methyl-3-Hydroxybutryl CoA Dehydrogenase Deficiency
smpdb_id:SMP00137
kegg_map_id:
[2]:
name:3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
smpdb_id:SMP00138
kegg_map_id:
[3]:
name:3-hydroxyisobutyric acid dehydrogenase deficiency
smpdb_id:SMP00521
kegg_map_id:
[4]:
name:3-hydroxyisobutyric aciduria
smpdb_id:SMP00522
kegg_map_id:
[5]:
name:3-Methylcrotonyl Coa Carboxylase Deficiency Type I
smpdb_id:SMP00237
kegg_map_id:
[6]:
name:3-Methylglutaconic Aciduria Type I
smpdb_id:SMP00139
kegg_map_id:
[7]:
name:3-Methylglutaconic Aciduria Type III
smpdb_id:SMP00140
kegg_map_id:
[8]:
name:3-Methylglutaconic Aciduria Type IV
smpdb_id:SMP00141
kegg_map_id:
[9]:
name:Beta-Ketothiolase Deficiency
smpdb_id:SMP00173
kegg_map_id:
[10]:
name:Isobutyryl-coa dehydrogenase deficiency
smpdb_id:SMP00523
kegg_map_id:
[11]:
name:Isovaleric acidemia
smpdb_id:SMP00524
kegg_map_id:
[12]:
name:Isovaleric Aciduria
smpdb_id:SMP00238
kegg_map_id:
[13]:
name:Maple Syrup Urine Disease
smpdb_id:SMP00199
kegg_map_id:
[14]:
name:Methylmalonate Semialdehyde Dehydrogenase Deficiency
smpdb_id:SMP00384
kegg_map_id:
[15]:
name:Methylmalonic Aciduria
smpdb_id:SMP00200
kegg_map_id:
[16]:
name:Propionic Acidemia
smpdb_id:SMP00236
kegg_map_id:
[17]:
name:Valine, leucine and isoleucine degradation
smpdb_id:
kegg_map_id:map00280
正常浓度
1:
biospecimen:Blood
concentration_value:14.0 (0.0-28.0)
concentration_units:uM
subject_age:Children (1-13 years old)
subject_sex:Both
subject_condition:Normal
2:
biospecimen:Blood
concentration_value:11.0 +/- 1.7
concentration_units:uM
subject_age:Adult (>18 years old)
subject_sex:Both
subject_condition:Normal
3:
biospecimen:Blood
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Female
subject_condition:Normal
4:
biospecimen:Cerebrospinal Fluid (CSF)
concentration_value:6 +/- 3
concentration_units:uM
subject_age:Adult (>18 years old)
subject_sex:Both
subject_condition:Normal
5:
biospecimen:Cerebrospinal Fluid (CSF)
concentration_value:8.2 +/- 6.8
concentration_units:uM
subject_age:Adult (>18 years old)
subject_sex:Both
subject_condition:Normal
6:
biospecimen:Feces
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Both
subject_condition:Normal
7:
biospecimen:Feces
concentration_value:
concentration_units:
subject_age:Adult (>18 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:Saliva
concentration_value:0.679 +/- 0.369
concentration_units:uM
subject_age:Adult (>18 years old)
subject_sex:Female
subject_condition:Normal
10:
biospecimen:Saliva
concentration_value:0.752 +/- 0.287
concentration_units:uM
subject_age:Adult (>18 years old)
subject_sex:Not Specified
subject_condition:Normal
11:
biospecimen:Saliva
concentration_value:1.06 +/- 0.436
concentration_units:uM
subject_age:Adult (>18 years old)
subject_sex:Not Specified
subject_condition:Normal
12:
biospecimen:Saliva
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Male
subject_condition:Normal
13:
biospecimen:Saliva
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Male
subject_condition:Normal
14:
biospecimen:Saliva
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Male
subject_condition:Normal
15:
biospecimen:Saliva
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Male
subject_condition:Normal
16:
biospecimen:Saliva
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Male
subject_condition:Normal
17:
biospecimen:Saliva
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Male
subject_condition:Normal
18:
biospecimen:Saliva
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Male
subject_condition:Normal
19:
biospecimen:Saliva
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Male
subject_condition:Normal
20:
biospecimen:Saliva
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Male
subject_condition:Normal
21:
biospecimen:Saliva
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Male
subject_condition:Normal
22:
biospecimen:Saliva
concentration_value:0.345 +/- 0.858
concentration_units:uM
subject_age:Adult (>18 years old)
subject_sex:Male
subject_condition:Normal
23:
biospecimen:Saliva
concentration_value:0.434 +/- 0.382
concentration_units:uM
subject_age:Adult (>18 years old)
subject_sex:Female
subject_condition:Normal
24:
biospecimen:Saliva
concentration_value:0.656 +/- 0.399
concentration_units:uM
subject_age:Adult (>18 years old)
subject_sex:Female
subject_condition:Normal
25:
biospecimen:Urine
concentration_value:0.78-1.2
concentration_units:umol/mmol creatinine
subject_age:Adult (>18 years old)
subject_sex:Female
subject_condition:Normal
26:
biospecimen:Urine
concentration_value:0.16 +/- 0.48
concentration_units:umol/mmol creatinine
subject_age:Infant (0-1 year old)
subject_sex:Both
subject_condition:Normal
27:
biospecimen:Urine
concentration_value:0.5 (0.2-1.1)
concentration_units:umol/mmol creatinine
subject_age:Adult (>18 years old)
subject_sex:Both
subject_condition:Normal
28:
biospecimen:Urine
concentration_value:0.13 (0.00-0.54)
concentration_units:umol/mmol creatinine
subject_age:Adult (>18 years old)
subject_sex:Male
subject_condition:Normal
29:
biospecimen:Urine
concentration_value:0.07 (0.01-0.45)
concentration_units:umol/mmol creatinine
subject_age:Adult (>18 years old)
subject_sex:Female
subject_condition:Normal
30:
biospecimen:Urine
concentration_value:0.79-1.1
concentration_units:umol/mmol creatinine
subject_age:Adult (>18 years old)
subject_sex:Male
subject_condition:Normal
31:
biospecimen:Urine
concentration_value:0.07 (0.01-0.45)
concentration_units:umol/mmol creatinine
subject_age:Adult (>18 years old)
subject_sex:Female
subject_condition:Normal
异常浓度
1:
biospecimen:Blood
concentration_value:10.7 +/- 5.5
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Heart Transplant
2:
biospecimen:Blood
concentration_value:237
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Female
patient_information:Maple syrup urine disease
3:
biospecimen:Cerebrospinal Fluid (CSF)
concentration_value:189
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Female
patient_information:Maple syrup urine disease
4:
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Colorectal Cancer
5:
biospecimen:Urine
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Bladder cancer
6:
biospecimen:Urine
concentration_value:550.00 (300.00-800.00)
concentration_units:umol/mmol creatinine
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Maple syrup urine disease (MSUD). When treated, the concentrations are 1-2 uM/mM.
7:
biospecimen:Urine
concentration_value:550.00 (300.00-800.00)
concentration_units:umol/mmol creatinine
patient_age:Children (1-13 years old)
patient_sex:Both
patient_information:Maple syrup urine disease (MSUD). When treated, the concentrations are 1-2 uM/mM.
疾病参考
1:
name:Colorectal cancer
omim_id:114500
[1]:
reference_text:Ishiwata S, Itoh K, Yamaguchi T, Ishida N, Mizugaki M: Comparison of serum and urinary levels of modified nucleoside, 1-methyladenosine, in cancer patients using a monoclonal antibody-based inhibition ELISA. Tohoku J Exp Med. 1995 May;176(1):61-8.
pubmed_id:7482520
[2]:
reference_text:Monleon D, Morales JM, Barrasa A, Lopez JA, Vazquez C, Celda B: Metabolite profiling of fecal water extracts from human colorectal cancer. NMR Biomed. 2009 Apr;22(3):342-8. doi: 10.1002/nbm.1345.
pubmed_id:19006102
[3]:
reference_text:Weir TL, Manter DK, Sheflin AM, Barnett BA, Heuberger AL, Ryan EP: Stool microbiome and metabolome differences between colorectal cancer patients and healthy adults. PLoS One. 2013 Aug 6;8(8):e70803. doi: 10.1371/journal.pone.0070803. Print 2013.
pubmed_id:23940645
[4]:
reference_text:Phua LC, Chue XP, Koh PK, Cheah PY, Ho HK, Chan EC: Non-invasive fecal metabonomic detection of colorectal cancer. Cancer Biol Ther. 2014 Apr;15(4):389-97. doi: 10.4161/cbt.27625. Epub 2014 Jan 14.
pubmed_id:24424155
[5]:
reference_text:Ritchie SA, Ahiahonu PW, Jayasinghe D, Heath D, Liu J, Lu Y, Jin W, Kavianpour A, Yamazaki Y, Khan AM, Hossain M, Su-Myat KK, Wood PL, Krenitsky K, Takemasa I, Miyake M, Sekimoto M, Monden M, Matsubara H, Nomura F, Goodenowe DB: Reduced levels of hydroxylated, polyunsaturated ultra long-chain fatty acids in the serum of colorectal cancer patients: implications for early screening and detection. BMC Med. 2010 Feb 15;8:13. doi: 10.1186/1741-7015-8-13.
pubmed_id:20156336
[6]:
reference_text:Qiu Y, Cai G, Su M, Chen T, Zheng X, Xu Y, Ni Y, Zhao A, Xu LX, Cai S, Jia W: Serum metabolite profiling of human colorectal cancer using GC-TOFMS and UPLC-QTOFMS. J Proteome Res. 2009 Oct;8(10):4844-50. doi: 10.1021/pr9004162.
pubmed_id:19678709
[7]:
reference_text:Cheng Y, Xie G, Chen T, Qiu Y, Zou X, Zheng M, Tan B, Feng B, Dong T, He P, Zhao L, Zhao A, Xu LX, Zhang Y, Jia W: Distinct urinary metabolic profile of human colorectal cancer. J Proteome Res. 2012 Feb 3;11(2):1354-63. doi: 10.1021/pr201001a. Epub 2011 Dec 28.
pubmed_id:22148915
[8]:
reference_text:Ni Y, Xie G, Jia W: Metabonomics of human colorectal cancer: new approaches for early diagnosis and biomarker discovery. J Proteome Res. 2014 Sep 5;13(9):3857-70. doi: 10.1021/pr500443c. Epub 2014 Aug 14.
pubmed_id:25105552
[9]:
reference_text:Ikeda A, Nishiumi S, Shinohara M, Yoshie T, Hatano N, Okuno T, Bamba T, Fukusaki E, Takenawa T, Azuma T, Yoshida M: Serum metabolomics as a novel diagnostic approach for gastrointestinal cancer. Biomed Chromatogr. 2012 May;26(5):548-58. doi: 10.1002/bmc.1671. Epub 2011 Jul 20.
pubmed_id:21773981
[10]:
reference_text:Goedert JJ, Sampson JN, Moore SC, Xiao Q, Xiong X, Hayes RB, Ahn J, Shi J, Sinha R: Fecal metabolomics: assay performance and association with colorectal cancer. Carcinogenesis. 2014 Sep;35(9):2089-96. doi: 10.1093/carcin/bgu131. Epub 2014 Jul 18.
pubmed_id:25037050
[11]:
reference_text:Sinha R, Ahn J, Sampson JN, Shi J, Yu G, Xiong X, Hayes RB, Goedert JJ: Fecal Microbiota, Fecal Metabolome, and Colorectal Cancer Interrelations. PLoS One. 2016 Mar 25;11(3):e0152126. doi: 10.1371/journal.pone.0152126. eCollection 2016.
pubmed_id:27015276
[12]:
reference_text:Lin Y, Ma C, Liu C, Wang Z, Yang J, Liu X, Shen Z, Wu R: NMR-based fecal metabolomics fingerprinting as predictors of earlier diagnosis in patients with colorectal cancer. Oncotarget. 2016 May 17;7(20):29454-64. doi: 10.18632/oncotarget.8762.
pubmed_id:27107423
[13]:
reference_text:Brown DG, Rao S, Weir TL, O'Malia J, Bazan M, Brown RJ, Ryan EP: Metabolomics and metabolic pathway networks from human colorectal cancers, adjacent mucosa, and stool. Cancer Metab. 2016 Jun 6;4:11. doi: 10.1186/s40170-016-0151-y. eCollection 2016.
pubmed_id:27275383
[14]:
reference_text:Wang X, Wang J, Rao B, Deng L: Gut flora profiling and fecal metabolite composition of colorectal cancer patients and healthy individuals. Exp Ther Med. 2017 Jun;13(6):2848-2854. doi: 10.3892/etm.2017.4367. Epub 2017 Apr 20.
pubmed_id:28587349
[15]:
reference_text:Silke Matysik, Caroline Ivanne Le Roy, Gerhard Liebisch, Sandrine Paule Claus. Metabolomics of fecal samples: A practical consideration. Trends in Food Science & Technology. Vol. 57, Part B, Nov. 2016, p.244-255: http://www.sciencedirect.com/science/article/pii/S0924224416301984
2:
name:Maple syrup urine disease
omim_id:248600
[1]:
reference_text:Deng C, Shang C, Hu Y, Zhang X: Rapid diagnosis of phenylketonuria and other aminoacidemias by quantitative analysis of amino acids in neonatal blood spots by gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Jul 25;775(1):115-20.
pubmed_id:12101068
[2]:
reference_text:Schadewaldt P, Bodner-Leidecker A, Hammen HW, Wendel U: Significance of L-alloisoleucine in plasma for diagnosis of maple syrup urine disease. Clin Chem. 1999 Oct;45(10):1734-40.
pubmed_id:10508118
[3]:
reference_text:Schadewaldt P, Hammen HW, Ott AC, Wendel U: Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine disease. J Inherit Metab Dis. 1999 Aug;22(6):706-22.
pubmed_id:10472531
[4]:
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
[5]:
reference_text:Kumps A, Duez P, Mardens Y: Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: a comprehensive table. Clin Chem. 2002 May;48(5):708-17.
pubmed_id:11978597
[6]:
reference_text:Podebrad F, Heil M, Reichert S, Mosandl A, Sewell AC, Bohles H: 4,5-dimethyl-3-hydroxy-2[5H]-furanone (sotolone)--the odour of maple syrup urine disease. J Inherit Metab Dis. 1999 Apr;22(2):107-14.
pubmed_id:10234605
[7]:
reference_text:Shigematsu Y, Kikuchi K, Momoi T, Sudo M, Kikawa Y, Nosaka K, Kuriyama M, Haruki S, Sanada K, Hamano N, et al.: Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease. J Inherit Metab Dis. 1983;6(4):183-9.
pubmed_id:6422161
[8]:
reference_text:Yunus ZM, Kamaludin DA, Mamat M, Choy YS, Ngu L: Clinical and biochemical profiles of maple syrup urine disease in malaysian children. JIMD Rep. 2012;5:99-107. doi: 10.1007/8904_2011_105. Epub 2011 Dec 11.
pubmed_id:23430924
[9]:
reference_text:Barschak AG, Marchesan C, Sitta A, Deon M, Giugliani R, Wajner M, Vargas CR: Maple syrup urine disease in treated patients: biochemical and oxidative stress profiles. Clin Biochem. 2008 Mar;41(4-5):317-24. Epub 2007 Dec 5.
pubmed_id:18088602
[10]:
reference_text:MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)
pubmed_id:
[11]:
reference_text:Peritoneal dialysis in maple-syrup-urine disease: Studies on branched-chain amino and keto acids. Eur J Pediatr (1980) 134: 57. https://doi.org/10.1007/BF00442404
pubmed_id:
维基百科编号
Alpha-Ketoisovaleric acid
代谢途径的数据库编号
2-KETO-ISOVALERATE
综合参考
Pirrung, Michael C.; Ha, Hyun Joon; Holmes, Christopher P. Purification and inhibition of spinach a,b-dihydroxyacid dehydratase . Journal of Organic Chemistry (1989), 54(7), 1543-8.
一般参考
1:
protein_accession:HMDBP00012
name:Pyruvate dehydrogenase E1 component subunit beta, mitochondrial
uniprot_id:P11177
gene_name:PDHB
protein_type:Enzyme
2:
protein_accession:HMDBP00046
name:Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
uniprot_id:P08559
gene_name:PDHA1
protein_type:Enzyme
3:
protein_accession:HMDBP00050
name:Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial
uniprot_id:P29803
gene_name:PDHA2
protein_type:Enzyme
4:
protein_accession:HMDBP00055
name:Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
uniprot_id:P10515
gene_name:DLAT
protein_type:Enzyme
5:
protein_accession:HMDBP00299
name:2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
uniprot_id:P21953
gene_name:BCKDHB
protein_type:Enzyme
6:
protein_accession:HMDBP00300
name:2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
uniprot_id:P12694
gene_name:BCKDHA
protein_type:Unknown
7:
protein_accession:HMDBP00301
name:Branched-chain-amino-acid aminotransferase, cytosolic
uniprot_id:P54687
gene_name:BCAT1
protein_type:Enzyme
8:
protein_accession:HMDBP00516
name:Branched-chain-amino-acid aminotransferase, mitochondrial
uniprot_id:O15382
gene_name:BCAT2
protein_type:Enzyme
9:
protein_accession:HMDBP01109
name:Monocarboxylate transporter 4
uniprot_id:O15427
gene_name:SLC16A3
protein_type:Transporter
10:
protein_accession:HMDBP01111
name:Monocarboxylate transporter 1
uniprot_id:P53985
gene_name:SLC16A1
protein_type:Transporter
11:
protein_accession:HMDBP01115
name:Monocarboxylate transporter 2
uniprot_id:O60669
gene_name:SLC16A7
protein_type:Transporter
蛋白质结合
1:
reference_text:Schaefer K, von Herrath D, Erley CM, Asmus G: Calcium ketovaline as new therapy for uremic hyperphosphatemia. Miner Electrolyte Metab. 1990;16(6):362-4.
pubmed_id:2089249
2:
reference_text:Shoemaker JD, Elliott WH: Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease. J Chromatogr. 1991 Jan 2;562(1-2):125-38.
pubmed_id:2026685
3:
reference_text:Livesey G, Lund P: Binding of branched-chain 2-oxo acids to bovine serum albumin. Biochem J. 1982 Apr 15;204(1):265-72.
pubmed_id:7115325
4:
reference_text:Shigematsu Y, Kikuchi K, Momoi T, Sudo M, Kikawa Y, Nosaka K, Kuriyama M, Haruki S, Sanada K, Hamano N, et al.: Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease. J Inherit Metab Dis. 1983;6(4):183-9.
pubmed_id:6422161
5:
reference_text:Chuang DT, Niu WL, Cox RP: Activities of branched-chain 2-oxo acid dehydrogenase and its components in skin fibroblasts from normal and classical-maple-syrup-urine-disease subjects. Biochem J. 1981 Oct 15;200(1):59-67.
pubmed_id:6895847
6:
reference_text:Lee SH, Kim SO, Chung BC: Gas chromatographic-mass spectrometric determination of urinary oxoacids using O-(2,3,4,5,6-pentafluorobenzyl)oxime-trimethylsilyl ester derivatization and cation-exchange chromatography. J Chromatogr B Biomed Sci Appl. 1998 Nov 20;719(1-2):1-7.
pubmed_id:9869358
7:
reference_text:Gallina DL, Dominguez JM, Hoschoian JC, Barrio JR: Maintenance of nitrogen balance in a young woman by substitution of -ketoisovaleric acid for valine. J Nutr. 1971 Sep;101(9):1165-7.
pubmed_id:5096137
8:
reference_text:Schauder P, Schroder K, Langenbeck U: Serum branched-chain amino and keto acid response to a protein-rich meal in man. Ann Nutr Metab. 1984;28(6):350-6.
pubmed_id:6393856
9:
reference_text:Tsuchiya H, Hashizume I, Tokunaga T, Tatsumi M, Takagi N, Hayashi T: High-performance liquid chromatography of alpha-keto acids in human saliva. Arch Oral Biol. 1983;28(11):989-92.
pubmed_id:6581765
10:
reference_text:Yudkoff M, Daikhin Y, Nissim I, Horyn O, Luhovyy B, Lazarow A, Nissim I: Brain amino acid requirements and toxicity: the example of leucine. J Nutr. 2005 Jun;135(6 Suppl):1531S-8S.
pubmed_id:15930465
11:
reference_text:Elshenawy S, Pinney SE, Stuart T, Doulias PT, Zura G, Parry S, Elovitz MA, Bennett MJ, Bansal A, Strauss JF 3rd, Ischiropoulos H, Simmons RA: The Metabolomic Signature of the Placenta in Spontaneous Preterm Birth. Int J Mol Sci. 2020 Feb 4;21(3). pii: ijms21031043. doi: 10.3390/ijms21031043.
pubmed_id:32033212