Biopterin

From NuGOwiki

The NuGOwiki Metabolite Database is a joint initiative of NuGO and HMDB

Taxonomy Navigation Box; search by

Biopterin
2D structure for Biopterin
Chemical Name	2-amino-6-(1,2-dihydroxypropyl)-1H-pteridin-4-one
Chemical Formula	C₉H₁₁N₅O₃
CAS Number	22150-76-1
Chemical Information	HMDB00468
Biochemical Taxonomy	Pterins
Functional Taxonomy	Coenzyme
Nutritional Taxonomy	Not Available
Metabolic Pathways	Not Available
Biofluid Location	Blood Cellular Cytoplasm Cerebrospinal Fluid (CSF)
Tissue Location	Epidermis Fibroblasts Liver Brain
Normal Biofluid Concentrations	Blood: 0.017 +/- 0.0025 uM Cellular Cytoplasm: 0.033 +/- 0.0073 uM Cerebrospinal Fluid (CSF): 0.021 - 0.038 uM Cerebrospinal Fluid (CSF): 0.026 - 0.052 uM
Normal Tissue Concentrations	Not Available
Diseases / Conditions Related to Nutrition	Segawa Syndrome
Other (Monogenic Disorders)	Hyperphenylalaninemia with primapterinuria OMIM: 264070
Abnormal Biofluid Concentrations	Cerebrospinal Fluid (CSF) (Segawa Syndrome): 20.6 (19.2 - 22.0) uM
Abnormal Tissue Concentrations	Not Available
Physiological Processes	Not Available

Authors:
Affiliations:

Introduction

guidelines
Biopterin concentrations in cerebrospinal fluid from patients with Parkinson's 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 (Segawa's disease), biopterin in cerebrospinal fluid decrease in parallel owing to the decreased activity in 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 resultant deficiency of tyrosine- and tryptophan-derived monoamine neurotransmitters in brain. (PMID 3930837)