Biopterin
Biopterin concentrations in cerebrospinal fluid from patients with Parkinsons disease, in which the nigrostriatal dopamine neurons degenerate, are lower than those from age-matched older controls. In hereditary progressive dystonia/DOPA-responsive dystonia, which is a dopamine deficiency caused by mutations in GTP cyclohydrolase I without neuronal cell death (Segawas disease), neopterin and biopterin in cerebrospinal fluid decrease in parallel owing to the decreased activity in GTP cyclohydrolase I. GTP cyclohydrolase I (EC 3.5.4.16) is an enzyme that is part of the folate and biopterin biosynthesis pathways. It is responsible for the hydrolysis of guanosine triphosphate (GTP) to form 7,8-dihydroneopterin 3-triphosphate. (Pteridines (1999), 10(1), 5-13.) Lowered levels of urinary biopterin concomitant with elevated serum phenylalanine concentration occur in a variant type of hyperphenylalaninemia caused by a deficiency of tetrahydrobiopterin (BH4), the obligatory cofactor for phenylalanine hydroxylase. The most frequent form of this cofactor deficiency is due to lack of 6-pyruvoyl-tetrahydropterin synthase (PTPS) activity, the second enzyme in the biosynthetic pathway for BH4. (PMID 8178819 ) The hepatic phenylalanine hydroxylating system consists of 3 essential components, phenylalanine hydroxylase, dihydropteridine reductase, and the nonprotein coenzyme, tetrahydrobiopterin. The reductase and the pterin coenzyme are also essential components of the tyrosine and tryptophan hydroxylating systems. There are 3 distinct forms of phenylketonuria or hyperphenylalaninemia, each caused by lack of 1 of these essential components. The variant forms of the disease that are caused by the lack of dihydropteridine reductase or tetrahydrobiopterin are characterized by severe neurol. deterioration, impaired functioning of tyrosine and tryptophan hydroxylases, and the reslitant deficiency of tyrosine- and tryptophan-derived monoamine neurotransmitters in brain. (PMID 3930837 ).
Structure for HMDB00468 (Biopterin)
C9H11N5O3
237.2153
237.086189243
2-amino-6-[(1R,2S)-1,2-dihydroxypropyl]-1,4-dihydropteridin-4-one
2-amino-6-[(1R,2S)-1,2-dihydroxypropyl]-1H-pteridin-4-one
22150-76-1
LHQIJBMDNUYRAM-DZSWIPIPSA-N
This compound belongs to the class of chemical entities 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.
Chemical entities
Organic compounds
Organoheterocyclic compounds
Pteridines and derivatives
Biopterins and derivatives
Aromatic heteropolycyclic compounds
Detected and Quantified
Not Available
Solid
GC-MS Spectrum – GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies)splash10-0aos-1922500000-07177d5a450dbf7c637aView in MoNA
LC-MS/MS Spectrum – Quattro_QQQ 10V, Positive (Annotated)splash10-000i-0190000000-cea25aa8258af5c9e837View in MoNA
LC-MS/MS Spectrum – Quattro_QQQ 25V, Positive (Annotated)splash10-004i-0900000000-32102578ef16c3df8f17View in MoNA
LC-MS/MS Spectrum – Quattro_QQQ 40V, Positive (Annotated)splash10-0a5c-5900000000-441b149b7ee5432cdac3View in MoNA
1H NMR SpectrumNot Available
[1H,13C] 2D NMR SpectrumNot Available
Not Available
- 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 ]
Not Available
Not Available
Not Available
Not Available
FDB022060
Not Available
392795
C06313
BIOPTERIN
Not Available
Biopterin
HMDB00468
HMDB00468
247
445040
1B66
63931
- 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 ]
- 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 ]
- 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 ]
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- 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 ]
- 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 ]
- 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 ]
- 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 ]
- 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 ]
- 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 ]
- 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 ]
- 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 ]
- Kaufman S: Hyperphenylalaninaemia caused by defects in biopterin metabolism. J Inherit Metab Dis. 1985;8 Suppl 1:20-7. [PubMed:3930837 ]
- (). Nagatsu T, Ichinose H, Mogi M, Togari A (1999) Neopterin and cytokines in hereditary dystonia and Parkinson’s disease. Pteridines 10: 5–13.. .