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- 6-Pyruvoyltetrahydropterin_synthase_deficiency abstract "6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency.It belongs to the rare diseases. It is a recessive disorder that is accompanied by hyperphenylalaninemia. Commonly reported symptoms are initial truncal hypotonia, subsequent appendicular hypertonia, bradykinesia, cogwheel rigidity, generalized dystonia, and marked diurnal fluctuation. Other reported clinical features include difficulty in swallowing, oculogyric crises, somnolence, irritability, hyperthermia, and seizures. Chorea, athetosis, hypersalivation, rash with eczema, and sudden death have also been reported. Patients with mild phenotypes may deteriorate if given folate antagonists such as methotrexate, which can interfere with a salvage pathway through which dihydrobiopterin is converted into tetrahydrobiopterin via dihydrofolate reductase. Treatment options include substitution with neurotransmitter precursors (levodopa, 5-hydroxytryptophan), monoamine oxidase inhibitors, and tetrahydrobiopterin. Response to treatment is variable and the long-term and functional outcome is unknown. To provide a basis for improving the understanding of the epidemiology, genotype/phenotype correlation and outcome of these diseases their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies a patient registry was established by the noncommercial International Working Group on Neurotransmitter Related Disorders (iNTD).".
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageID "3906966".
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageLength "2674".
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageOutDegree "31".
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageRevisionID "707899980".
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink 5-Hydroxytryptophan.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink 6-pyruvoyltetrahydropterin_synthase.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Antifolate.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Athetosis.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Category:Amino_acid_metabolism_disorders.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Category:Autosomal_recessive_disorders.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Category:Vitamin,_coenzyme,_and_cofactor_metabolism_disorders.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Chorea.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Dermatitis.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Dihydrobiopterin.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Dihydrofolate_reductase.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Dystonia.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Epileptic_seizure.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Gear.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Hyperphenylalaninemia.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Hypersalivation.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Hyperthermia.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Hypertonia.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Hypokinesia.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Hypotonia.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Irritability.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink L-DOPA.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Methotrexate.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Monoamine_oxidase_inhibitor.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Oculogyric_crisis.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Rigidity.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Somnolence.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Tetrahydrobiopterin.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLink Tetrahydrobiopterin_deficiency.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageWikiLinkText "6-Pyruvoyltetrahydropterin synthase deficiency".
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageUsesTemplate Template:Amino_acid_metabolic_pathology.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageUsesTemplate Template:Genetic-disorder-stub.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageUsesTemplate Template:Metabolic_disorders_of_vitamins,_coenzymes,_and_cofactors.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageUsesTemplate Template:OMIM.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wikiPageUsesTemplate Template:Reflist.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency subject Category:Amino_acid_metabolism_disorders.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency subject Category:Autosomal_recessive_disorders.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency subject Category:Vitamin,_coenzyme,_and_cofactor_metabolism_disorders.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency hypernym Disorder.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency type Disease.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency type Disorder.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency type Error.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency type Redirect.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency comment "6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency.It belongs to the rare diseases. It is a recessive disorder that is accompanied by hyperphenylalaninemia. Commonly reported symptoms are initial truncal hypotonia, subsequent appendicular hypertonia, bradykinesia, cogwheel rigidity, generalized dystonia, and marked diurnal fluctuation.".
- 6-Pyruvoyltetrahydropterin_synthase_deficiency label "6-Pyruvoyltetrahydropterin synthase deficiency".
- 6-Pyruvoyltetrahydropterin_synthase_deficiency sameAs Q4641554.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency sameAs Niedobór_syntazy_6-pirogronianotetrahydropteryny.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency sameAs m.0b662s.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency sameAs Q4641554.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency wasDerivedFrom 6-Pyruvoyltetrahydropterin_synthase_deficiency?oldid=707899980.
- 6-Pyruvoyltetrahydropterin_synthase_deficiency isPrimaryTopicOf 6-Pyruvoyltetrahydropterin_synthase_deficiency.