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Record Information
Version5.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2020-10-09 21:01:16 UTC
HMDB IDHMDB0000959
Secondary Accession Numbers
  • HMDB00959
Metabolite Identification
Common NameTiglylglycine
DescriptionTiglylglycine is an acyl glycine. Acyl glycines are normally minor metabolites of fatty acids. However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. In certain cases the measurement of these metabolites in body fluids can be used to diagnose disorders associated with mitochondrial fatty acid beta-oxidation. Acyl glycines are produced through the action of glycine N-acyltransferase (EC 2.3.1.13) which is an enzyme that catalyzes the chemical reaction: acyl-CoA + glycine < -- > CoA + N-acylglycine. Tiglylglycine is an intermediate product of the catabolism of isoleucine. An elevated level of tiglylglycine is identified in urine of patients with beta-ketothiolase deficiency or with disorders of propionate metabolism (PMID 7923765 ). Tiglyglycine is a biomarker for the consumption of cheese.
Structure
Data?1582752167
Synonyms
ValueSource
N-TiglylglycineChEBI
(e)-N-(2-Methyl-1-oxo-2-butenyl)-glycineHMDB
N-((e)-2-Methyl-but-2-enoyl)-glycineHMDB
N-TigloylglycineHMDB
Chemical FormulaC7H11NO3
Average Molecular Weight157.1671
Monoisotopic Molecular Weight157.073893223
IUPAC Name2-[(2E)-2-methylbut-2-enamido]acetic acid
Traditional Name[(2E)-2-methylbut-2-enamido]acetic acid
CAS Registry Number35842-45-6
SMILES
C\C=C(/C)C(=O)NCC(O)=O
InChI Identifier
InChI=1S/C7H11NO3/c1-3-5(2)7(11)8-4-6(9)10/h3H,4H2,1-2H3,(H,8,11)(H,9,10)/b5-3+
InChI KeyWRUSVQOKJIDBLP-HWKANZROSA-N
Chemical Taxonomy
Description Belongs to the class of organic compounds known as n-acyl-alpha amino acids. N-acyl-alpha amino acids are compounds containing an alpha amino acid which bears an acyl group at its terminal nitrogen atom.
KingdomOrganic compounds
Super ClassOrganic acids and derivatives
ClassCarboxylic acids and derivatives
Sub ClassAmino acids, peptides, and analogues
Direct ParentN-acyl-alpha amino acids
Alternative Parents
Substituents
  • N-acyl-alpha-amino acid
  • N-acyl-amine
  • Secondary carboxylic acid amide
  • Carboxamide group
  • Monocarboxylic acid or derivatives
  • Carboxylic acid
  • Organic nitrogen compound
  • Organic oxygen compound
  • Organopnictogen compound
  • Organic oxide
  • Hydrocarbon derivative
  • Organooxygen compound
  • Organonitrogen compound
  • Carbonyl group
  • Aliphatic acyclic compound
Molecular FrameworkAliphatic acyclic compounds
External Descriptors
Ontology
Physiological effect

Adverse health effect

Disposition

Biological location

Source

Route of exposure

Physical Properties
StateSolid
Experimental Molecular Properties
PropertyValueReference
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Experimental Spectral Properties

Experimental Collision Cross Sections

PredictorAdduct TypeData SourceCCS Value (Å2)Reference
AllCCS[M-H]-Not Available142.931http://allccs.zhulab.cn/database/detail?ID=AllCCS00001751
Predicted Molecular Properties
PropertyValueSource
Water Solubility7.52 g/LALOGPS
logP10(0.33) g/LALOGPS
logP10(0.21) g/LChemAxon
logS10(-1.3) g/LALOGPS
pKa (Strongest Acidic)4.09ChemAxon
pKa (Strongest Basic)-0.49ChemAxon
Physiological Charge-1ChemAxon
Hydrogen Acceptor Count3ChemAxon
Hydrogen Donor Count2ChemAxon
Polar Surface Area66.4 ŲChemAxon
Rotatable Bond Count3ChemAxon
Refractivity40.13 m³·mol⁻¹ChemAxon
Polarizability15.97 ųChemAxon
Number of Rings0ChemAxon
BioavailabilityYesChemAxon
Rule of FiveYesChemAxon
Ghose FilterNoChemAxon
Veber's RuleNoChemAxon
MDDR-like RuleNoChemAxon
Predicted Spectral Properties

Predicted Collision Cross Sections

PredictorAdduct TypeCCS Value (Å2)Reference
DarkChem[M+H]+31661259
DarkChem[M-H]-31661259
AllCCS[M+H]+136.32732859911
AllCCS[M-H]-133.47532859911

Predicted Kovats Retention Indices

Derivatized

Derivative Name / StructureSMILESKovats RI ValueColumn TypeReference
Tiglylglycine,1TMS,#1C/C=C(\C)C(=O)NCC(=O)O[Si](C)(C)C1584.4Semi standard non polarhttps://arxiv.org/abs/1905.12712
Tiglylglycine,1TMS,#2C/C=C(\C)C(=O)N(CC(=O)O)[Si](C)(C)C1563.8Semi standard non polarhttps://arxiv.org/abs/1905.12712
Tiglylglycine,1TBDMS,#1C/C=C(\C)C(=O)NCC(=O)O[Si](C)(C)C(C)(C)C1812.8Semi standard non polarhttps://arxiv.org/abs/1905.12712
Tiglylglycine,1TBDMS,#2C/C=C(\C)C(=O)N(CC(=O)O)[Si](C)(C)C(C)(C)C1801.4Semi standard non polarhttps://arxiv.org/abs/1905.12712
Spectra

GC-MS Spectra

Spectrum TypeDescriptionSplash KeyDeposition DateSourceView
Predicted GC-MSPredicted GC-MS Spectrum - Tiglylglycine GC-MS (Non-derivatized) - 70eV, Positivesplash10-001i-9200000000-092824f74c108907a49e2017-09-01Wishart LabView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - Tiglylglycine GC-MS (1 TMS) - 70eV, Positivesplash10-00e9-9100000000-5d3935f85eccdefefb592017-10-06Wishart LabView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - Tiglylglycine GC-MS (Non-derivatized) - 70eV, PositiveNot Available2021-10-12Wishart LabView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - Tiglylglycine GC-MS (Non-derivatized) - 70eV, PositiveNot Available2021-10-12Wishart LabView Spectrum

MS/MS Spectra

Spectrum TypeDescriptionSplash KeyDeposition DateSourceView
Experimental LC-MS/MSLC-MS/MS Spectrum - Tiglylglycine Quattro_QQQ 10V, Positive-QTOF (Annotated)splash10-004i-9000000000-4f7bd3c47a6d77fcc1782012-07-24HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Tiglylglycine Quattro_QQQ 25V, Positive-QTOF (Annotated)splash10-004i-9000000000-7ee9df3c83b8760c7e092012-07-24HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Tiglylglycine Quattro_QQQ 40V, Positive-QTOF (Annotated)splash10-03fr-9000000000-da47f9a5f3d8fdcaf90a2012-07-24HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Tiglylglycine LC-ESI-QTOF (UPLC Q-Tof Premier, Waters) , Positive-QTOFsplash10-001i-9000000000-6fdd0ba2be939d0a161a2012-08-31HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Tiglylglycine LC-ESI-QTOF (UPLC Q-Tof Premier, Waters) , Negative-QTOFsplash10-0a4i-1900000000-2cd6e4c6ab2eeb8473282012-08-31HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Tiglylglycine LC-ESI-QTOF , negative-QTOFsplash10-0a4i-1900000000-2cd6e4c6ab2eeb8473282017-09-14HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Tiglylglycine LC-ESI-QTOF , positive-QTOFsplash10-001i-9000000000-6fdd0ba2be939d0a161a2017-09-14HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Tiglylglycine 20V, Positive-QTOFsplash10-0a4i-9000000000-6640ab0bba7f488fb1b72021-09-20HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Tiglylglycine 10V, Positive-QTOFsplash10-001i-9000000000-52faded097646da69ec72021-09-20HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Tiglylglycine 10V, Negative-QTOFsplash10-0bt9-2900000000-605b7b7b40a77223a8f92021-09-20HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Tiglylglycine 40V, Positive-QTOFsplash10-0a4i-9000000000-86f6f96695e2d9fe9a9a2021-09-20HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Tiglylglycine 40V, Negative-QTOFsplash10-0006-9000000000-ddf9655db6a774124c692021-09-20HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Tiglylglycine 20V, Negative-QTOFsplash10-03di-7900000000-ecab07cf409aa411046f2021-09-20HMDB team, MONAView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Tiglylglycine 10V, Positive-QTOFsplash10-0a59-5900000000-7e583345ae99d6656bad2017-09-01Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Tiglylglycine 20V, Positive-QTOFsplash10-0a59-9300000000-25bd55529a83deba5ea22017-09-01Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Tiglylglycine 40V, Positive-QTOFsplash10-0a4i-9000000000-c359dba2d89f41f032242017-09-01Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Tiglylglycine 10V, Negative-QTOFsplash10-0a4i-0900000000-3376764fa5c9bcdde3472017-09-01Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Tiglylglycine 20V, Negative-QTOFsplash10-0a4i-2900000000-4dde97028084b16db2bd2017-09-01Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Tiglylglycine 40V, Negative-QTOFsplash10-0ab9-9000000000-7185fafe7ab0f33f5c5d2017-09-01Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Tiglylglycine 10V, Positive-QTOFsplash10-0a4i-5900000000-4d9d366aa5db2c4932772021-09-24Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Tiglylglycine 20V, Positive-QTOFsplash10-0a4i-9000000000-69e0efbc2e71d768a57c2021-09-24Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Tiglylglycine 40V, Positive-QTOFsplash10-0a4r-9000000000-fe61e613b1d7fd7c77e52021-09-24Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Tiglylglycine 10V, Negative-QTOFsplash10-052r-0900000000-c31bc851b562c2b429302021-09-24Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Tiglylglycine 20V, Negative-QTOFsplash10-05fu-9300000000-2ec83a972a0157664b352021-09-24Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Tiglylglycine 40V, Negative-QTOFsplash10-0a4i-9000000000-372794b6f97a5c4c14812021-09-24Wishart LabView Spectrum

NMR Spectra

Spectrum TypeDescriptionDeposition DateSourceView
Predicted 1D NMR1H NMR Spectrum (1D, 100 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 100 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 200 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 200 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 300 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 300 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 400 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 400 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 500 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 500 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 600 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 600 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 700 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 700 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 800 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 800 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 900 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 900 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 1000 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 1000 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Experimental 2D NMR[1H, 13C]-HSQC NMR Spectrum (2D, 600 MHz, H2O, experimental)2012-12-05Wishart LabView Spectrum
Biological Properties
Cellular Locations
  • Cytoplasm
Biospecimen Locations
  • Urine
Tissue LocationsNot Available
Pathways
Normal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
UrineDetected and Quantified0-3.8 umol/mmol creatinineNewborn (0-30 days old)Both
Normal
details
UrineDetected and Quantified<7 umol/mmol creatinineAdult (>18 years old)BothNormal details
UrineDetected and Quantified0.94-1.8 umol/mmol creatinineAdult (>18 years old)FemaleNormal details
UrineDetected and Quantified<15.62 umol/mmol creatinineChildren (1 - 18 years old)Both
Normal
    • BC Children's Hos...
details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothNormal details
UrineDetected and Quantified0-0.1 umol/mmol creatinineInfant (0-1 year old)Female
Normal
details
UrineDetected and Quantified<5 umol/mmol creatinineNot SpecifiedNot SpecifiedNormal details
UrineDetected and Quantified0.1 (0.1-7.6) umol/mmol creatinineNewborn (0-30 days old)BothNormal details
UrineDetected and Quantified2.5 (0.1-6.7) umol/mmol creatinineChildren (1-13 years old)Both
Normal
details
UrineDetected and Quantified2.1 (0.1-5.9) umol/mmol creatinineChildren (1-13 years old)Both
Normal
details
UrineDetected and Quantified1.8 (0.1-6.3) umol/mmol creatinineAdult (>18 years old)Both
Normal
details
UrineDetected and Quantified0.78-1.2 umol/mmol creatinineAdult (>18 years old)MaleNormal details
UrineDetected and Quantified0.5688–5.0342 umol/mmol creatinineAdult (25-30 years old)Both
Not Available
details
UrineDetected and Quantified0.5598–3.5193 umol/mmol creatinineAdult (25-30 years old)Both
Not Available
details
UrineDetected and Quantified0.4703–3.1901 umol/mmol creatinineAdult (25-30 years old)Both
Not Available
details
Abnormal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
UrineDetected and Quantified6.7-45.8 umol/mmol creatinineChildren (1-13 years old)Male
Beta-ketothiolase deficiency
details
UrineDetected and Quantified87 umol/mmol creatinineNewborn (0-30 days old)Not SpecifiedBeta-ketothiolase deficiency details
UrineDetected and Quantified930.484-993.797 umol/mmol creatinineChildren (1 - 13 years old)Female
Ketosis
    • B. Middleton et a...
details
UrineDetected and Quantified1.0 (0.0-2.0) umol/mmol creatinineAdult (>18 years old)BothBeta-ketothiolase deficiency
    • MetaGene: Metabol...
details
UrineDetected and Quantified500.0 (0.0-1000.0) umol/mmol creatinineChildren (1-13 years old)BothBeta-Ketothiolase deficiency
    • MetaGene: Metabol...
details
UrineDetected and Quantified6.44 umol/mmol creatinineAdult (>18 years old)Not Specified
Propionic acidemia
details
UrineDetected and Quantified21 umol/mmol creatinineChildren (1-13 years old)Female
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
details
UrineDetected and Quantified145-440 umol/mmol creatinineInfant (0-1 year old)Male
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
details
Associated Disorders and Diseases
Disease References
Beta-ketothiolase deficiency
  1. Fukao T, Maruyama S, Ohura T, Hasegawa Y, Toyoshima M, Haapalainen AM, Kuwada N, Imamura M, Yuasa I, Wierenga RK, Yamaguchi S, Kondo N: Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry. JIMD Rep. 2012;3:107-15. doi: 10.1007/8904_2011_72. Epub 2011 Sep 6. [PubMed:23430882 ]
  2. Scolamiero E, Cozzolino C, Albano L, Ansalone A, Caterino M, Corbo G, di Girolamo MG, Di Stefano C, Durante A, Franzese G, Franzese I, Gallo G, Giliberti P, Ingenito L, Ippolito G, Malamisura B, Mazzeo P, Norma A, Ombrone D, Parenti G, Pellecchia S, Pecce R, Pierucci I, Romanelli R, Rossi A, Siano M, Stoduto T, Villani GR, Andria G, Salvatore F, Frisso G, Ruoppolo M: Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. Mol Biosyst. 2015 Jun;11(6):1525-35. doi: 10.1039/c4mb00729h. [PubMed:25689098 ]
  3. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Ketosis
  1. B. Middleton et al. (1986). B. Middleton et al. 3-Ketothiolase deficiency. Eur J Pediatr (1986) 144:586-589. Eur J Pediatr.
Propionic acidemia
  1. Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, van der Ploeg L, Heymans S, Glatz JFC, van den Wijngaard A, Krapels IPC, Bierau J, Brunner HG: Propionic acidemia as a cause of adult-onset dilated cardiomyopathy. Eur J Hum Genet. 2017 Nov;25(11):1195-1201. doi: 10.1038/ejhg.2017.127. Epub 2017 Aug 30. [PubMed:28853722 ]
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
  1. Perez-Cerda C, Garcia-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, Garcia-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediatr Res. 2005 Sep;58(3):488-91. [PubMed:16148061 ]
Associated OMIM IDs
  • 203750 (Beta-ketothiolase deficiency)
  • 606054 (Propionic acidemia)
  • 300438 (2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency)
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FooDB IDFDB022337
KNApSAcK IDNot Available
Chemspider ID4945715
KEGG Compound IDNot Available
BioCyc IDNot Available
BiGG IDNot Available
Wikipedia LinkNot Available
METLIN ID4246
PubChem Compound6441567
PDB IDNot Available
ChEBI ID73018
Food Biomarker OntologyNot Available
VMH IDNot Available
MarkerDB IDMDB00000292
Good Scents IDNot Available
References
Synthesis ReferenceRiordan, James M.; Stammer, Charles H. Synthesis of unsaturated azlactones from N-acylamino acids. Journal of Organic Chemistry (1974), 39(5), 654-9.; Carter, S. M. Bonham; Watson, D. G.; Midgley, J. M.; Logan, R. W. Synthesis and characterization of acyl glycines. Their measurement in single blood spots by gas chromatography-mass spectrometry to diagnose inborn errors of metabolism. Journal of Chromatography, B: Biomedical Applications (1996), 677(1), 29-35.
Material Safety Data Sheet (MSDS)Download (PDF)
General References
  1. Guneral F, Bachmann C: Age-related reference values for urinary organic acids in a healthy Turkish pediatric population. Clin Chem. 1994 Jun;40(6):862-6. [PubMed:8087979 ]
  2. Aramaki S, Lehotay D, Sweetman L, Nyhan WL, Winter SC, Middleton B: Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency. J Inherit Metab Dis. 1991;14(1):63-74. [PubMed:1861461 ]
  3. Tein I, Haslam RH, Rhead WJ, Bennett MJ, Becker LE, Vockley J: Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. Neurology. 1999 Jan 15;52(2):366-72. [PubMed:9932958 ]
  4. Apostoli P, Sarnico M, Bavazzano P, Bartoli D: Arsenic and porphyrins. Am J Ind Med. 2002 Sep;42(3):180-7. [PubMed:12210687 ]
  5. Hagen T, Korson MS, Sakamoto M, Evans JE: A GC/MS/MS screening method for multiple organic acidemias from urine specimens. Clin Chim Acta. 1999 May;283(1-2):77-88. [PubMed:10404733 ]
  6. Poll-The BT, Wanders RJ, Ruiter JP, Ofman R, Majoie CB, Barth PG, Duran M: Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases. Mol Genet Metab. 2004 Apr;81(4):295-9. [PubMed:15059617 ]
  7. Fukao T, Zhang GX, Sakura N, Kubo T, Yamaga H, Hazama A, Kohno Y, Matsuo N, Kondo M, Yamaguchi S, Shigematsu Y, Kondo N: The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity. J Inherit Metab Dis. 2003;26(5):423-31. [PubMed:14518824 ]
  8. Zschocke J, Ruiter JP, Brand J, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E: Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr Res. 2000 Dec;48(6):852-5. [PubMed:11102558 ]
  9. Bennett MJ, Powell S, Swartling DJ, Gibson KM: Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS. Clin Chem. 1994 Oct;40(10):1879-83. [PubMed:7923765 ]
  10. Fukao T, Kodama A, Aoyanagi N, Tsukino R, Uemura S, Song XQ, Watanebe H, Kuhara T, Matsumoto I, Orii T, Kondo N: Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes. Clin Genet. 1996 Oct;50(4):263-6. [PubMed:9001814 ]

Enzymes

General function:
Involved in glycine N-acyltransferase activity
Specific function:
Mitochondrial acyltransferase which transfers an acyl group to the N-terminus of glycine and glutamine, although much less efficiently. Can conjugate numerous substrates to form a variety of N-acylglycines, with a preference for benzoyl-CoA over phenylacetyl-CoA as acyl donors. Thereby detoxify xenobiotics, such as benzoic acid or salicylic acid, and endogenous organic acids, such as isovaleric acid.
Gene Name:
GLYAT
Uniprot ID:
Q6IB77
Molecular weight:
18506.33
General function:
Involved in glycine N-acyltransferase activity
Specific function:
Acyltransferase which transfers an acyl group to the N-terminus of glutamine. Can use phenylacetyl-CoA as an acyl donor.
Gene Name:
GLYATL1
Uniprot ID:
Q969I3
Molecular weight:
35100.895
General function:
Involved in glycine N-acyltransferase activity
Specific function:
Mitochondrial acyltransferase which transfers the acyl group to the N-terminus of glycine. Conjugates numerous substrates, such as arachidonoyl-CoA and saturated medium and long-chain acyl-CoAs ranging from chain-length C8:0-CoA to C18:0-CoA, to form a variety of N-acylglycines. Shows a preference for monounsaturated fatty acid oleoyl-CoA (C18:1-CoA) as an acyl donor. Does not exhibit any activity toward C22:6-CoA and chenodeoxycholoyl-CoA, nor toward serine or alanine.
Gene Name:
GLYATL2
Uniprot ID:
Q8WU03
Molecular weight:
34277.055
General function:
Involved in glycine N-acyltransferase activity
Specific function:
Acyltransferase which transfers the acyl group to the N- terminus of glycine
Gene Name:
GLYATL3
Uniprot ID:
Q5SZD4
Molecular weight:
32703.3