Biopterin synthesis defect. Treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterin.

No abstract is available for this paper.

• Publication year

  1984

• Venue

  Journal of Clinical Investigation

• Publication date

  1984-02-01

• Fields of study

  Medicine, Chemistry

• Identifiers
  DOI 10.1172/JCI111232PMID 6142058PMCID PMC425037
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Structural and biochemical changes in rat cerebral cortex after neonatal 6-hydroxydopamine administration

  2004cited by this paper
• Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin

  1983cited by this paper
• Plasma dopamine: regulation and significance.

  1983cited by this paper
• Measurement of L-dihydroxyphenylalanine in plasma and other biological fluids by high pressure liquid chromatography with electrochemical detection.

  1982cited by this paper
• Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening und study of biosynthesis in man

  1982cited by this paper
• Atypical phenylketonuria due to biopterin deficiency. Early treatment with tetrahydrobiopterin and neurotransmitter precursors, trials of monotherapy.

  1982cited by this paper
• Use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: evidence that peripherally administered tetrahydropterins enter the brain.

  1982cited by this paper
• Direct inhibition of brain sepiapterin reductase by a catecholamine and an indoleamine.

  1982cited by this paper
• Hyperphenylalaninemia due to impaired dihydrobiopterin biosynthesis

  1981cited by this paper
• Neurotransmitter defects and treatment of disorders of hyperphenylalaninemia.

  1981cited by this paper
• Rat Brain and Plasma Norepinephrine Glycol Metabolites Determined by Gas Chromatography‐Mass Fragmentography

  1981cited by this paper
• Effect of Cyclic AMP‐Dependent Protein Phosphorylating Conditions on the pH‐Dependent Activity of Tyrosine Hydroxylase from Beef and Rat Striata

  1981cited by this paper
• Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism.

  1981cited by this paper
• Peripherally administered reduced pterins do enter the brain.

  1981cited by this paper
• High performance liquid chromatographic analysis of urinary catecholamines employing amperometric detection: references values and use in laboratory diagnosis of neural crest tumors.

  1980cited by this paper
• Age effect on dopamine and serotonin metabolite levels in cerebrospinal fluid

  1980cited by this paper
• Progress in phenylketonuria: defects in the metabolism of biopterin.

  1980cited by this paper
• Neopterin and Biopterin Levels in Patients with Atypical Forms of Phenylketonuria

  1980cited by this paper
• A sibling case of hyperphenylalaninemia due to a deficiency of dihydropteridine reductase: biochemical and pathological findings.

  1980cited by this paper
• Depression: new evidence in support of biological differentiation.

  1979cited by this paper
• DEPENDENCE OF BRAIN TRYPTAMINE FORMATION ON TRYPTOPHAN AVAILABILITY

  1979cited by this paper
• Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin.

  1979cited by this paper
• Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia.

  1979cited by this paper
• Malignant Hyperphenylalaninemia—Clinical Features, Biochemical Findings, and Experience with Administration of Biopterins

  1979cited by this paper
• Hyperphenylalaniaemia due to dihydropteridine reductase deficiency

  1978cited by this paper
• Urinary catecholamines and metabolites in children.

  1978cited by this paper
• Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis.

  1978influential reference
• Probenecid-induced norepinephrine elevations in plasma and CSF.

  1978cited by this paper
• Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.

  1978cited by this paper
• A disorder of biogenic amines in dihydropteridine reductase deficiency

  1978cited by this paper
• Malignant hyperphenylalaninaemia—Current status (June 1977)

  1978cited by this paper
• Analysis of acidic monoamine metabolites by gas chromatography-mass spectrometry.

  1977cited by this paper
• Determination of transmitter function by neuronal activity.

  1977cited by this paper
• Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.

  1977cited by this paper
• A simple specific radioenzymatic assay for the simultaneous measurement of picogram quantities of norepinephrine, epinephrine, and dopamine and in plasma and tissues.

  1977cited by this paper
• CNS monoamine metabolism in bipolar affective disorder. Evaluation using a peripheral decarboxylase inhibitor.

  1977cited by this paper
• Effect of beta-endorphin on striatal dopamine metabolism.

  1977cited by this paper
• Biogenic amine synthesis defect in dihydropteridine reductase deficiency

  1977cited by this paper
• Simultaneous determination of the three major monoamine metabolites in brain tissue and body fluids by a mass fragmentographic method

  1976cited by this paper
• Effects of p-chlorophenylalanine on time of neuronal origin during embryogenesis in the rat.

  1976cited by this paper
• Phenylketonuria due to a deficiency of dihydropteridine reductase.

  1975cited by this paper
• Studies on the phenylalanine hydroxylase system in vivo. An in vivo assay based on the liberation of deuterium or tritium into the body water from ring-labeled L-phenylalanine.

  1975cited by this paper
• Dopamine infusion acutely inhibits the TSH and prolactin response to TRH.

  1975cited by this paper
• Studies on the phenylalanine hydroxylase system in liver slices.

  1975cited by this paper
• Free and conjugated dopamine in plasma during levodopa therapy

  1974cited by this paper
• Simultaneous determination of 3,4-dihydroxyphenylacetic acid and homovanillic acid in milligram amounts of rat striatal tissue by gas-liquid chromatography.

  1974cited by this paper
• Properties of purifed quinonoid dihydropterin reductase.

  1973cited by this paper
• Metabolic patterns and clinical response to levodopa therapy in Parkinson's disease

  1973cited by this paper
• Partial purification and characterization of tryptophan hydroxylase from rabbit hindbrain.

  1972cited by this paper
• The effects of high phenylalanine concentrations on serotonin and catecholamine metabolism in the human brain.

  1972cited by this paper
• TRANSAMINATION OF AROMATIC AMINO ACIDS IN RAT BRAIN

  1964cited by this paper
• Further studies on the phenylalanine-hydroxylation cofactor.

  1959cited by this paper

• Tetrahydrobiopterin in phenylketonuria: Who can benefit?

  2020cites this paper
• University of Groningen Phenylketonuria : towards mechanism-based treatment

  2018cites this paper
• Characterising tuberculosis and treatment failure thereof using metabolomics

  2017cites this paper
• BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.

  2017cites this paper
• Tuberculosis metabolomics reveals adaptations of man and microbe in order to outcompete and survive

  2016cites this paper
• Erratum to: Tuberculosis metabolomics reveals adaptations of man and microbe in order to outcompete and survive

  2016cites this paper
• Integrated theory to unify status among schizophrenia and manic depressive illness.

  2015cites this paper
• Chapter 92 – Amino Acid Metabolism

  2013cites this paper
• WITHDRAWN: Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan.

  2011cites this paper
• Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan.

  2011cites this paper
• Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency

  2009cites this paper
• A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels.

  2008cites this paper
• Phenylketonuria in Greece: 12 years' experience.

  2008cites this paper
• Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency.

  2008cites this paper
• Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.

  2006cites this paper
• Subtle brain dysfunction in treated 6-pyruvoyl-tetrahydropterin synthase deficiency: relationship to motor tasks and neurophysiological tests.

  2004cites this paper
• Cranial MR spectroscopy of tetrahydrobiopterin deficiency.

  2002cites this paper
• Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.

  2001cites this paper
• Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency

  2001cites this paper
• Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations

  2001cites this paper
• Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients

  1999cites this paper
• Stimulation of the Brain NO/Cyclic GMP Pathway by Peripheral Administration of Tetrahydrobiopterin in the hph‐1 Mouse

  1999cites this paper
• Hyperprolactinemia, a Tool in Treatment Control of Tetrahydrobiopterin Deficiency: Endocrine Studies in an Affected Girl

  1998cites this paper
• Pteridines and Neuroimmune Function and Pathology

  1997cites this paper
• GTP Cyclohydrolase I Feedback Regulatory Protein Is a Pentamer of Identical Subunits

  1997cites this paper
• Biosynthesis of nitric oxide: dependence on pteridine metabolism.

  1996cites this paper
• Tetrahydrobiopterin and inherited hyperphenylalaninemias.

  1996cites this paper
• Neurochemical Effects Following Peripheral Administration of Tetrahydropterin Derivatives to the hph‐1 Mouse

  1996cites this paper
• Tetrahydrobiopterin and Biogenic Amine Metabolism in the hph‐1 Mouse

  1996cites this paper
• Feedback regulation mechanisms for the control of GTP cyclohydrolase I activity.

  1993cites this paper
• Tetrahydrobiopterin Cofactor Biosynthesis: GTP Cyclohydrolase I mRNA Expression in Rat Brain and Superior Cervical Ganglia

  1993cites this paper
• Differential metabolism of tetrahydrobiopterin in monoamine neurons: a hypothesis based upon clinical and basic research.

  1993cites this paper
• Tetrahydrobiopterin Deficiency: From Phenotype to Genotype

  1993cites this paper
• Plasma and urinary levels of biopterin, neopterin, and related pterins and plasma levels of folate in infantile autism

  1992cites this paper
• Tetrahydrobiopterin Turnover in Cultured Rat Sympathetic Neurons: Developmental Profile, Pharmacologic Sensitivity, and Relationship to Norepinephrine Synthesis

  1992cites this paper
• Paroxysmal tremor and orofacial dyskinesia secondary to a biopterin synthesis defect

  1991cites this paper
• Disorders of Tetrahydrobiopterin Metabolism

  1990cites this paper
• Inborn Errors of Metabolism: Rare Diseases or Indicators to Pathogenic Mechanisms?

  1990cites this paper
• Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin.

  1989cites this paper
• The Pharmacology of Levodopa in Treatment of Parkinson’s Disease: An Update

  1989cites this paper
• Mendelian hyperphenylalaninemia.

  1988cites this paper
• Inborn errors of pterin metabolism.

  1988cites this paper
• Tetrahydrobiopterin and Biogenic Amine Metabolism in Neuropsychiatry, Immunology, and Aging

  1988cites this paper
• Biochemical and behavioural indices of striatal dopaminergic activity after 6-methyltetrahydropterin.

  1987cites this paper
• Synthetic analogues of tetrahydrobiopterin with cofactor activity for aromatic amino acid hydroxylases.

  1987cites this paper
• Enzymology of the phenylalanine-hydroxylating system.

  1987cites this paper
• Selection for phenylalanine hydroxylase activity in cells transformed with recombinant retroviruses

  1987cites this paper
• Successful long term therapy of biopterin deficiency

  1987cites this paper
• Unsolved problems in diagnosis and therapy of hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism.

  1986cites this paper
• Pteridines and mono-amines: relevance to neurological damage.

  1986cites this paper
• The toxicity of tetrahydrobiopterin: acute and subchronic studies in mice.

  1986cites this paper
• A sensitive assay of GTP cyclohydrolase I activity in rat and human tissues using radioimmunoassay of neopterin.

  1986cites this paper
• Differences in the metabolism of the aromatic amino acid hydroxylase cofactor, tetrahydrobiopterin, in mutant mice with neurological and immunological defects

  1986cites this paper
• Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin.

  1985cites this paper
• Differential diagnosis of tetrahydrobiopterin deficiency

  1985cites this paper
• Recent developments in neonatal screening.

  1985cites this paper
• Clinical role of pteridine therapy in tetrahydrobiopterin deficiency

  1985cites this paper
• Hyperphenylalaninaemia caused by defects in biopterin metabolism

  1985cites this paper
• 8 – The hyperphenylalaninaemias

  1985cites this paper
• Malignant phenylketonuria due to defective synthesis of dihydrobiopterin.

  1985cites this paper