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- Tetrahydrobiopterin_deficiency abstract "Tetrahydrobiopterin deficiency (THBD, BH4D), also called THB or BH4 deficiency, is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained through the diet. It is found in all proteins and in some artificial sweeteners. If tetrahydrobiopterin deficiency is not treated, excess phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.High levels of phenylalanine are present from infancy in people with untreated tetrahydrobiopterin (THB, BH4) deficiency. The resulting signs and symptoms range from mild to severe. Mild complications may include temporary low muscle tone. Severe complications include intellectual disability, movement disorders, difficulty swallowing, seizures, behavioral problems, progressive problems with development, and an inability to control body temperature. It was first characterized in 1975.".
- Tetrahydrobiopterin_deficiency icd10 "E70.1".
- Tetrahydrobiopterin_deficiency icd9 "270.1".
- Tetrahydrobiopterin_deficiency thumbnail Tetrahydrobiopterin_structure.png?width=300.
- Tetrahydrobiopterin_deficiency wikiPageExternalLink www.bh4.org.
- Tetrahydrobiopterin_deficiency wikiPageID "3407595".
- Tetrahydrobiopterin_deficiency wikiPageLength "5559".
- Tetrahydrobiopterin_deficiency wikiPageOutDegree "40".
- Tetrahydrobiopterin_deficiency wikiPageRevisionID "696649145".
- Tetrahydrobiopterin_deficiency wikiPageWikiLink 5-Hydroxytryptophan.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Amino_acid.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Brain.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Category:Amino_acid_metabolism_disorders.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Category:Disorders_causing_seizures.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Category:Intellectual_disability.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Category:Vitamin,_coenzyme,_and_cofactor_metabolism_disorders.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Central_nervous_system.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Dihydrofolate_reductase.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Dominance_(genetics).
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Dopamine.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Epinephrine.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink File:Autorecessive.svg.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Folinic_acid.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink GTP_cyclohydrolase_I.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Human_body_temperature.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Hydroxylation.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Intellectual_disability.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink L-DOPA.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Metabolic_disorder.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Methylenetetrahydrofolate_reductase.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Mutation.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Neurotransmitter.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Nitric_oxide.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Norepinephrine.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink PCBD1.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink PTS_(gene).
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Peroxynitrite.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Phenylalanine.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Phenylketonuria.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink QDPR.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Serotonin.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Sugar_substitute.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Taiwan.
- Tetrahydrobiopterin_deficiency wikiPageWikiLink Tetrahydrobiopterin.
- Tetrahydrobiopterin_deficiency wikiPageWikiLinkText "Tetrahydrobiopterin deficiency".
- Tetrahydrobiopterin_deficiency wikiPageWikiLinkText "tetrahydrobiopterin deficiency".
- Tetrahydrobiopterin_deficiency caption Tetrahydrobiopterin.
- Tetrahydrobiopterin_deficiency emedicinesubj "ped".
- Tetrahydrobiopterin_deficiency emedicinetopic "2226".
- Tetrahydrobiopterin_deficiency icd "270.1".
- Tetrahydrobiopterin_deficiency icd "E70.1".
- Tetrahydrobiopterin_deficiency name "Tetrahydrobiopterin deficiency".
- Tetrahydrobiopterin_deficiency wikiPageUsesTemplate Template:Amino_acid_metabolic_pathology.
- Tetrahydrobiopterin_deficiency wikiPageUsesTemplate Template:Infobox_disease.
- Tetrahydrobiopterin_deficiency wikiPageUsesTemplate Template:Metabolic_disorders_of_vitamins,_coenzymes,_and_cofactors.
- Tetrahydrobiopterin_deficiency wikiPageUsesTemplate Template:Reflist.
- Tetrahydrobiopterin_deficiency subject Category:Amino_acid_metabolism_disorders.
- Tetrahydrobiopterin_deficiency subject Category:Autosomal_recessive_disorders.
- Tetrahydrobiopterin_deficiency subject Category:Disorders_causing_seizures.
- Tetrahydrobiopterin_deficiency subject Category:Intellectual_disability.
- Tetrahydrobiopterin_deficiency subject Category:Vitamin,_coenzyme,_and_cofactor_metabolism_disorders.
- Tetrahydrobiopterin_deficiency hypernym Disorder.
- Tetrahydrobiopterin_deficiency type Disease.
- Tetrahydrobiopterin_deficiency type Disorder.
- Tetrahydrobiopterin_deficiency type Error.
- Tetrahydrobiopterin_deficiency type Redirect.
- Tetrahydrobiopterin_deficiency type Thing.
- Tetrahydrobiopterin_deficiency type Q12136.
- Tetrahydrobiopterin_deficiency comment "Tetrahydrobiopterin deficiency (THBD, BH4D), also called THB or BH4 deficiency, is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained through the diet. It is found in all proteins and in some artificial sweeteners.".
- Tetrahydrobiopterin_deficiency label "Tetrahydrobiopterin deficiency".
- Tetrahydrobiopterin_deficiency sameAs Q7706537.
- Tetrahydrobiopterin_deficiency sameAs Niedobór_tetrahydrobiopteryny.
- Tetrahydrobiopterin_deficiency sameAs m.099xtm.
- Tetrahydrobiopterin_deficiency sameAs Q7706537.
- Tetrahydrobiopterin_deficiency wasDerivedFrom Tetrahydrobiopterin_deficiency?oldid=696649145.
- Tetrahydrobiopterin_deficiency depiction Tetrahydrobiopterin_structure.png.
- Tetrahydrobiopterin_deficiency isPrimaryTopicOf Tetrahydrobiopterin_deficiency.
- Tetrahydrobiopterin_deficiency name "Tetrahydrobiopterin deficiency".