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Record Information
Version5.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2021-09-14 15:40:00 UTC
HMDB IDHMDB0000468
Secondary Accession Numbers
  • HMDB00468
Metabolite Identification
Common NameBiopterin
DescriptionBiopterin, also known as tetrahydrobiopterin or BH4, belongs to the class of organic compounds known as biopterins and derivatives. These are coenzymes containing a 2-amino-pteridine-4-one derivative. Biopterin or tetrahydrobiopterin is also classified as a pterin derivative that consists of pterin group bearing an amino, an oxo and a 1,2-dihydroxypropyl substituent at positions 2, 4 and 6, respectively. Biopterin compounds found within the animals include BH4 (tetrahydrobiopterin), the free radical BH3, and BH2 (also a free radical, called Dihydrobiopterin). BH2 is produced in the synthesis of L-DOPA, dopamine, norepinephrine and epinephrine. It is restored to the required cofactor tetrahydrobiopterin by the enzyme dihydrobiopterin reductase. Tetrahydrobiopterin (BH4) is a cofactor of the three aromatic amino acid hydroxylase enzymes, used in the degradation of amino acid phenylalanine and in the biosynthesis of the neurotransmitters serotonin (5-hydroxytryptamine, 5-HT), melatonin, dopamine, norepinephrine (noradrenaline), epinephrine (adrenaline). It is also a cofactor for the production of nitric oxide (NO) by the nitric oxide syntheses. Tetrahydrobiopterin is biosynthesized from guanosine triphosphate (GTP) by three chemical reactions mediated by the enzymes GTP cyclohydrolase I (GTPCH), 6-pyruvoyltetrahydropterin synthase (PTPS), and sepiapterin reductase (SR). Biopterin synthesis disorders are a cause of hyperphenylalaninemia. There are 3 distinct forms of phenylketonuria or hyperphenylalaninemia, each caused by lack of aromatic amino acid hydroxylase enzymes. The variant forms of hyperphenylalaninemia that are caused by the lack of dihydropteridine reductase or tetrahydrobiopterin are characterized by severe neurological deterioration, impaired functioning of tyrosine and tryptophan hydroxylases, and the resultant deficiency of tyrosine- and tryptophan-derived monoamine neurotransmitters in brain. (PMID 3930837 ).
Structure
Data?1582752133
Synonyms
ValueSource
(-)-BiopterinChEBI
(1'r,1's) BiopterinHMDB
2-amino-6-(L-erythro-1,2-Dihydroxypropyl)-4(3H)-pteridinoneHMDB
6-BiopterinHMDB
L-BiopterinHMDB
L-erythro-BiopterinHMDB
Pterin H b2HMDB
[S-(R*,s*)]-2-amino-6-(1,2-dihydroxypropyl)-4(1H)-pteridinoneHMDB
OrinapterinMeSH, HMDB
DictyopterinMeSH, HMDB
2-amino-6-(1,2-Dihydroxypropyl)-4(1H)-pteridinoneMeSH, HMDB
BiopterinMeSH
Chemical FormulaC9H11N5O3
Average Molecular Weight237.2153
Monoisotopic Molecular Weight237.086189243
IUPAC Name2-amino-6-[(1R,2S)-1,2-dihydroxypropyl]-4,8-dihydropteridin-4-one
Traditional Name2-amino-6-[(1R,2S)-1,2-dihydroxypropyl]-8H-pteridin-4-one
CAS Registry Number22150-76-1
SMILES
C[C@H](O)[C@H](O)C1=CNC2=NC(N)=NC(=O)C2=N1
InChI Identifier
InChI=1S/C9H11N5O3/c1-3(15)6(16)4-2-11-7-5(12-4)8(17)14-9(10)13-7/h2-3,6,15-16H,1H3,(H3,10,11,13,14,17)/t3-,6-/m0/s1
InChI KeyLHQIJBMDNUYRAM-DZSWIPIPSA-N
Chemical Taxonomy
Description Belongs to the class of organic compounds known as biopterins and derivatives. These are coenzymes containing a 2-amino-pteridine-4-one derivative. They are mainly synthesized in several parts of the body, including the pineal gland.
KingdomOrganic compounds
Super ClassOrganoheterocyclic compounds
ClassPteridines and derivatives
Sub ClassPterins and derivatives
Direct ParentBiopterins and derivatives
Alternative Parents
Substituents
  • Biopterin
  • Aminopyrimidine
  • Pyrimidone
  • Pyrazine
  • Pyrimidine
  • Heteroaromatic compound
  • Vinylogous amide
  • 1,2-diol
  • Secondary alcohol
  • Azacycle
  • Organic oxygen compound
  • Alcohol
  • Aromatic alcohol
  • Hydrocarbon derivative
  • Primary amine
  • Organooxygen compound
  • Organonitrogen compound
  • Organic nitrogen compound
  • Organic oxide
  • Amine
  • Organopnictogen compound
  • Aromatic heteropolycyclic compound
Molecular FrameworkAromatic heteropolycyclic compounds
External Descriptors
Ontology
Disposition

Source:

Biological location:

Physical Properties
StateSolid
Experimental Molecular Properties
PropertyValueReference
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water Solubility0.7 mg/mLNot Available
LogPNot AvailableNot Available
Predicted Molecular Properties
PropertyValueSource
Water Solubility4.06 g/LALOGPS
logP-1.4ALOGPS
logP-2.2ChemAxon
logS-2.5ALOGPS
pKa (Strongest Acidic)8.18ChemAxon
pKa (Strongest Basic)-1.4ChemAxon
Physiological Charge0ChemAxon
Hydrogen Acceptor Count8ChemAxon
Hydrogen Donor Count4ChemAxon
Polar Surface Area132.66 ŲChemAxon
Rotatable Bond Count2ChemAxon
Refractivity57.81 m³·mol⁻¹ChemAxon
Polarizability22.47 ųChemAxon
Number of Rings2ChemAxon
BioavailabilityYesChemAxon
Rule of FiveYesChemAxon
Ghose FilterNoChemAxon
Veber's RuleNoChemAxon
MDDR-like RuleNoChemAxon
Predicted Spectral Properties

Collision Cross Sections

NameAdductTypeData SourceValueReference
DeepCCS[M-H]-ExperimentalMetCCS_train_neg148.31530932474
DeepCCS[M+H]+ExperimentalMetCCS_train_pos153.47930932474
AllCCS[M-H]-ExperimentalNot Available148.315http://allccs.zhulab.cn/database/detail?ID=AllCCS00000324
AllCCS[M+H]+ExperimentalNot Available153.695http://allccs.zhulab.cn/database/detail?ID=AllCCS00000324
DarkChem[M+H]+PredictedNot Available153.77131661259
DarkChem[M+H]+PredictedNot Available153.77131661259
DarkChem[M-H]-PredictedNot Available152.65331661259
DarkChem[M-H]-PredictedNot Available152.65331661259
AllCCS[M+H]+PredictedNot Available153.13132859911
AllCCS[M-H]-PredictedNot Available152.11732859911

Retention Indices

Underivatized

Not Available

Derivatized

DerivativeValueReference
Biopterin,1TMS,#12396.5205https://arxiv.org/abs/1905.12712
Biopterin,1TMS,#22410.67https://arxiv.org/abs/1905.12712
Biopterin,1TMS,#32434.6794https://arxiv.org/abs/1905.12712
Biopterin,1TMS,#42439.1355https://arxiv.org/abs/1905.12712
Biopterin,2TMS,#12362.3955https://arxiv.org/abs/1905.12712
Biopterin,2TMS,#22319.9592https://arxiv.org/abs/1905.12712
Biopterin,2TMS,#32394.3323https://arxiv.org/abs/1905.12712
Biopterin,2TMS,#42300.3804https://arxiv.org/abs/1905.12712
Biopterin,2TMS,#52387.944https://arxiv.org/abs/1905.12712
Biopterin,2TMS,#62454.809https://arxiv.org/abs/1905.12712
Biopterin,2TMS,#72345.0698https://arxiv.org/abs/1905.12712
Biopterin,1TBDMS,#12613.242https://arxiv.org/abs/1905.12712
Biopterin,1TBDMS,#22632.2427https://arxiv.org/abs/1905.12712
Biopterin,1TBDMS,#32614.137https://arxiv.org/abs/1905.12712
Biopterin,1TBDMS,#42678.3125https://arxiv.org/abs/1905.12712
Biopterin,2TBDMS,#12758.0386https://arxiv.org/abs/1905.12712
Biopterin,2TBDMS,#22682.4854https://arxiv.org/abs/1905.12712
Biopterin,2TBDMS,#32823.1736https://arxiv.org/abs/1905.12712
Biopterin,2TBDMS,#42686.3264https://arxiv.org/abs/1905.12712
Biopterin,2TBDMS,#52812.7578https://arxiv.org/abs/1905.12712
Biopterin,2TBDMS,#62852.0813https://arxiv.org/abs/1905.12712
Biopterin,2TBDMS,#72721.8225https://arxiv.org/abs/1905.12712
Spectra

GC-MS

Spectrum TypeDescriptionSplash KeyDeposition DateView
GC-MSGC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (Non-derivatized)splash10-0aos-1922500000-07177d5a450dbf7c637a2014-06-16View Spectrum
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-0aos-1922500000-07177d5a450dbf7c637a2017-09-12View Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, Positivesplash10-0006-3910000000-90aa51259ebfb8feb1f52017-09-01View Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (2 TMS) - 70eV, Positivesplash10-044i-5094000000-cf05a1ca25a8f1348f752017-10-06View Spectrum
MSMass Spectrum (Electron Ionization)splash10-0006-3900000000-09d8331e2935931648c92021-09-05View Spectrum
MSMass Spectrum (Electron Ionization)splash10-0a4i-8900000000-5b42adf83e422cffefb62021-09-18View Spectrum
MSMass Spectrum (Electron Ionization)splash10-0a4i-9800000000-24fa3ff739ff064312ab2021-09-18View Spectrum

LC-MS/MS

Spectrum TypeDescriptionSplash KeyDeposition DateView
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 10V, Positive (Annotated)splash10-000i-0190000000-cea25aa8258af5c9e8372012-07-24View Spectrum
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 25V, Positive (Annotated)splash10-004i-0900000000-32102578ef16c3df8f172012-07-24View Spectrum
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 40V, Positive (Annotated)splash10-0a5c-5900000000-441b149b7ee5432cdac32012-07-24View Spectrum
LC-MS/MSLC-MS/MS Spectrum - 20V, Positivesplash10-004l-0920000000-6ebd6d01be7b4755e7652021-09-20View Spectrum
LC-MS/MSLC-MS/MS Spectrum - 10V, Positivesplash10-000i-0290000000-b312042f86e0c7f2f21f2021-09-20View Spectrum
LC-MS/MSLC-MS/MS Spectrum - 30V, Positivesplash10-01tc-1940000000-c430f7870641b07714a12021-09-20View Spectrum
LC-MS/MSLC-MS/MS Spectrum - 10V, Positivesplash10-01p9-0090000000-bae0fd7c5247d7cd79612021-09-20View Spectrum
LC-MS/MSLC-MS/MS Spectrum - 0V, Positivesplash10-000i-0090000000-f4a07c087ef8fff2e2a82021-09-20View Spectrum
LC-MS/MSLC-MS/MS Spectrum - 10V, Positivesplash10-000i-0190000000-f8f16fa810bd3969420a2021-09-20View Spectrum
LC-MS/MSLC-MS/MS Spectrum - 0V, Positivesplash10-000i-0090000000-b4b32605d4abfd33394e2021-09-20View Spectrum
LC-MS/MSLC-MS/MS Spectrum - 30V, Positivesplash10-0006-8900000000-944c0957bfd73e1b3de42021-09-20View Spectrum
LC-MS/MSLC-MS/MS Spectrum - 40V, Positivesplash10-0a59-4900000000-6b39c8f4e23fb16bc1bc2021-09-20View Spectrum
LC-MS/MSLC-MS/MS Spectrum - 30V, Positivesplash10-004l-1900000000-da31236bbf093051d9622021-09-20View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Positivesplash10-0079-0090000000-8aa892a20d8030a22d502017-09-01View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Positivesplash10-00dr-0190000000-55344345937d9883d7832017-09-01View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Positivesplash10-0h91-1920000000-a6b8c5b9d802ce02b0c52017-09-01View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Negativesplash10-000i-0290000000-f8e54aa1d030a0c8a29d2017-09-01View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Negativesplash10-0006-0940000000-c3bcfa7320d53b8780002017-09-01View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Negativesplash10-0006-9800000000-3ab4f0aaf7f070e3ae282017-09-01View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Positivesplash10-000i-0090000000-50efc32e534ecd957e712021-09-06View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Positivesplash10-0079-0290000000-7aaf4a05ccf0d0bdaaf12021-09-06View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Positivesplash10-00fr-2900000000-35f8aaab434d197dc7b02021-09-06View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Negativesplash10-0006-0900000000-04539012b288ea8b093b2021-09-07View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Negativesplash10-0006-0900000000-4d592fa1f3ce2b33e37c2021-09-07View Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Negativesplash10-0006-5900000000-775111b1a2ea5bbbf8e82021-09-07View Spectrum

NMR

Spectrum TypeDescriptionDeposition DateView
1D NMR1H NMR Spectrum (1D, 600 MHz, 100%_DMSO, experimental)2012-12-04View Spectrum
2D NMR[1H, 13C] NMR Spectrum (2D, 600 MHz, 100%_DMSO, predicted)2012-12-05View Spectrum
Biological Properties
Cellular Locations
  • Cytoplasm
Biospecimen Locations
  • Blood
  • Cellular Cytoplasm
  • Cerebrospinal Fluid (CSF)
  • Urine
Tissue Locations
  • Brain
  • Epidermis
  • Fibroblasts
  • Liver
  • Prostate
Pathways
Normal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified0.017 +/- 0.0025 uMAdult (>18 years old)BothNormal
    • Geigy Scientific ...
details
Cellular CytoplasmDetected and Quantified0.033 +/- 0.0073 uMAdult (>18 years old)Not SpecifiedNormal
    • Geigy Scientific ...
details
Cerebrospinal Fluid (CSF)Detected and Quantified0.026 - 0.052 uMNewborn (0-30 days old)Not SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified0.021 - 0.038 uMInfant (0-1 year old)Not SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified0.0132 +/- 0.0005 uMNot SpecifiedNot SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified0.0140-0.0360 uMAdolescent (13-18 years old)Not SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified0.01-0.042 uMChildren (1-13 years old)MaleNormal details
UrineDetected and Quantified0.24 +/- 0.07 umol/mmol creatinineAdult (>18 years old)MaleNormal
    • Geigy Scientific ...
details
UrineDetected and Quantified0.32 +/- 0.13 umol/mmol creatinineAdult (>18 years old)FemaleNormal
    • Geigy Scientific ...
details
UrineDetected and Quantified0.48 +/- 0.17 umol/mmol creatinineChildren (1-13 years old)BothNormal
    • Geigy Scientific ...
details
UrineDetected and Quantified0.13 +/- 0.084 umol/mmol creatinineNewborn (0-30 days old)BothNormal details
UrineDetected and Quantified0.3 +/- 0.14 umol/mmol creatinineChildren (1-13 years old)BothNormal details
UrineDetected and Quantified0.82 +/- 0.34 umol/mmol creatinineNewborn (0-30 days old)FemaleNormal details
UrineDetected and Quantified0.5-3.0 umol/mmol creatinineNewborn (0-30 days old)Not SpecifiedNormal details
Abnormal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
Cerebrospinal Fluid (CSF)Detected and Quantified0.0376 (0.0281-0.0471) uMChildren (1-13 years old)Malesepiapterin reductase deficiency details
Cerebrospinal Fluid (CSF)Detected and Quantified0.01 uMAdolescent (13-18 years old)Not AvailableUrocanase deficiency details
Cerebrospinal Fluid (CSF)Detected and Quantified0.0085 +/- 0.0003 uMNot SpecifiedNot Specifiedidiopathic parkinsonisam details
Cerebrospinal Fluid (CSF)Detected and Quantified0.0142 +/- 0.0012 uMNot SpecifiedNot Specifieddopa-nonresponsive dystonia details
Cerebrospinal Fluid (CSF)Detected and Quantified20.6 (19.2 - 22.0) uMAdult (>18 years old)Not SpecifiedSegawa Syndrome details
UrineDetected and Quantified0.19-0.63 umol/mmol creatinineNewborn (0-30 days old)BothHyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency (PTPS) details
UrineDetected and Quantified0.62 umol/mmol creatinineNewborn (0-30 days old)FemaleHyperphenylalaninemia due to pterin-4a-carbinolamine dehydratase details
Associated Disorders and Diseases
Disease References
Segawa Syndrome
  1. Furuya H, Murai H, Takasugi K, Ohyagi Y, Urano F, Kishi T, Ichinose H, Kira J: A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene. Clin Neurol Neurosurg. 2006 Dec;108(8):784-6. Epub 2005 Nov 14. [PubMed:16289769 ]
Sepiapterin reductase deficiency
  1. Verbeek MM, Willemsen MA, Wevers RA, Lagerwerf AJ, Abeling NG, Blau N, Thony B, Vargiami E, Zafeiriou DI: Two Greek siblings with sepiapterin reductase deficiency. Mol Genet Metab. 2008 Aug;94(4):403-9. doi: 10.1016/j.ymgme.2008.04.003. Epub 2008 May 27. [PubMed:18502672 ]
Parkinson's disease
  1. Furukawa Y, Nishi K, Mizuno Y, Narabayashi H: [Significance of CSF biopterin and neopterin in hereditary progressive dystonia with marked diurnal fluctuation (HPD)--a clue to pathogenesis]. No To Shinkei. 1995 Mar;47(3):261-8. [PubMed:7669428 ]
Urocanase deficiency
  1. Espinos C, Pineda M, Martinez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R: Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. J Med Genet. 2009 Jun;46(6):407-11. doi: 10.1136/jmg.2008.060632. Epub 2009 Mar 19. [PubMed:19304569 ]
6-Pyruvoyltetrahydropterin synthase deficiency
  1. Thony B, Leimbacher W, Blau N, Harvie A, Heizmann CW: Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. Am J Hum Genet. 1994 May;54(5):782-92. [PubMed:8178819 ]
Pterin-4a carbinolamine dehydratase deficiency
  1. Blaskovics M, Giudici TA: A new variant of biopterin deficiency. N Engl J Med. 1988 Dec 15;319(24):1611-2. doi: 10.1056/NEJM198812153192420. [PubMed:3200274 ]
Associated OMIM IDs
  • 128230 (Segawa Syndrome)
  • 182125 (Sepiapterin reductase deficiency)
  • 168600 (Parkinson's disease)
  • 276880 (Urocanase deficiency)
  • 261640 (6-Pyruvoyltetrahydropterin synthase deficiency)
  • 264070 (Pterin-4a carbinolamine dehydratase deficiency)
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FooDB IDFDB022060
KNApSAcK IDC00018229
Chemspider ID392795
KEGG Compound IDC06313
BioCyc IDCPD-10819
BiGG IDNot Available
Wikipedia LinkBiopterin
METLIN ID247
PubChem Compound445040
PDB IDNot Available
ChEBI ID63931
Food Biomarker OntologyNot Available
VMH IDNot Available
MarkerDB IDMDB00000167
References
Synthesis ReferenceMori, Kenji; Kikuchi, Haruhiko. Synthesis of (-)-biopterin. Liebigs Annalen der Chemie (1989), (10), 963-7.
Material Safety Data Sheet (MSDS)Not Available
General References
  1. Fiege B, Ballhausen D, Kierat L, Leimbacher W, Goriounov D, Schircks B, Thony B, Blau N: Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration. Mol Genet Metab. 2004 Jan;81(1):45-51. [PubMed:14728990 ]
  2. Friedland RP, Koss E, Haxby JV, Grady CL, Luxenberg J, Schapiro MB, Kaye J: NIH conference. Alzheimer disease: clinical and biological heterogeneity. Ann Intern Med. 1988 Aug 15;109(4):298-311. [PubMed:2969203 ]
  3. Snyderman SE, Sansaricq C, Pulmones MT: Successful long term therapy of biopterin deficiency. J Inherit Metab Dis. 1987;10(3):260-6. [PubMed:3123784 ]
  4. Nagatsu T, Yamaguchi T, Kato T, Sugimoto T, Matsuura S, Akino M, Nagatsu I, Iizuka R, Narabayashi H: Biopterin in human brain and urine from controls and parkinsonian patients: application of a new radioimmunoassay. Clin Chim Acta. 1981 Feb 5;109(3):305-11. [PubMed:6112078 ]
  5. Katoh S, Sueoka T, Matsuura S, Sugimoto T: Biopterin and neopterin in human saliva. Life Sci. 1989;45(26):2561-8. [PubMed:2615555 ]
  6. Ichinose H, Ohye T, Shinotoh H, Arai K, Yamazaki S, Mizuta E, Kuno S, Nagatsu T: Biopterin metabolism in patients with malignant syndrome. Parkinsonism Relat Disord. 2003 Apr;9 Suppl 1:S11-4. [PubMed:12735910 ]
  7. Zurfluh MR, Giovannini M, Fiori L, Fiege B, Gokdemir Y, Baykal T, Kierat L, Gartner KH, Thony B, Blau N: Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. Mol Genet Metab. 2005 Dec;86 Suppl 1:S96-103. Epub 2005 Nov 7. [PubMed:16275037 ]
  8. Ogiwara S, Kiuchi K, Nagatsu T, Teradaira R, Nagatsu I, Fujita K, Sugimoto T: Highly sensitive, specific enzyme-linked immunosorbent assay of neopterin and biopterin in biological samples. Clin Chem. 1992 Oct;38(10):1954-8. [PubMed:1394977 ]
  9. Hirata Y, Sawada M, Minami M, Arai H, Iizuka R, Nagatsu T: Tyrosine hydroxylase, tryptophan hydroxylase, biopterin, and neopterin in the brain of anorexia nervosa. J Neural Transm Gen Sect. 1990;80(2):145-50. [PubMed:1969283 ]
  10. Dhondt JL, Tilmont P, Ringel J, Farriaux JP: Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency. J Inherit Metab Dis. 1990;13(6):879-82. [PubMed:2079836 ]
  11. Furukawa Y, Kapatos G, Haycock JW, Worsley J, Wong H, Kish SJ, Nygaard TG: Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia. Ann Neurol. 2002 May;51(5):637-41. [PubMed:12112113 ]
  12. Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N: Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet. 2001 Aug;69(2):269-77. Epub 2001 Jul 6. [PubMed:11443547 ]
  13. Bonafe L, Thony B, Leimbacher W, Kierat L, Blau N: Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Clin Chem. 2001 Mar;47(3):477-85. [PubMed:11238300 ]
  14. Slazyk WE, Spierto FW: Liquid-chromatographic measurement of biopterin and neopterin in serum and urine. Clin Chem. 1990 Jul;36(7):1364-8. [PubMed:2372953 ]
  15. Dhondt JL, Hayte JM, Forzy G, Delcroix M, Farriaux JP: Unconjugated pteridines in amniotic fluid during gestation. Clin Chim Acta. 1986 Dec 30;161(3):269-73. [PubMed:3802534 ]
  16. Iizuka T, Sasaki M, Oishi K, Uemura S, Koike M, Minatogawa Y: Nitric oxide may trigger lactation in humans. J Pediatr. 1997 Dec;131(6):839-43. [PubMed:9427887 ]
  17. Zoghbi HY, Milstien S, Butler IJ, Smith EO, Kaufman S, Glaze DG, Percy AK: Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome. Ann Neurol. 1989 Jan;25(1):56-60. [PubMed:2913929 ]
  18. Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. doi: 10.1038/nature07762. [PubMed:19212411 ]
  19. Thony B, Leimbacher W, Blau N, Harvie A, Heizmann CW: Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. Am J Hum Genet. 1994 May;54(5):782-92. [PubMed:8178819 ]
  20. Kaufman S: Hyperphenylalaninaemia caused by defects in biopterin metabolism. J Inherit Metab Dis. 1985;8 Suppl 1:20-7. [PubMed:3930837 ]
  21. (). Nagatsu T, Ichinose H, Mogi M, Togari A (1999) Neopterin and cytokines in hereditary dystonia and Parkinson’s disease. Pteridines 10: 5–13.. .