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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 mental retardation 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 mental retardation, 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 emedicineSubject "ped".
- Tetrahydrobiopterin_deficiency emedicineTopic "2226".
- 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 wikiPageRevisionID "586674601".
- Tetrahydrobiopterin_deficiency caption Tetrahydrobiopterin.
- Tetrahydrobiopterin_deficiency emedicinesubj "ped".
- Tetrahydrobiopterin_deficiency emedicinetopic "2226".
- Tetrahydrobiopterin_deficiency hasPhotoCollection Tetrahydrobiopterin_deficiency.
- Tetrahydrobiopterin_deficiency icd "270.1".
- Tetrahydrobiopterin_deficiency icd "E70.1".
- Tetrahydrobiopterin_deficiency name "Tetrahydrobiopterin deficiency".
- Tetrahydrobiopterin_deficiency wordnet_type synset-disease-noun-1.
- Tetrahydrobiopterin_deficiency subject Category:Amino_acid_metabolism_disorders.
- Tetrahydrobiopterin_deficiency subject Category:Autosomal_recessive_disorders.
- Tetrahydrobiopterin_deficiency subject Category:Vitamin,_coenzyme,_and_cofactor_metabolism_disorders.
- Tetrahydrobiopterin_deficiency type Abstraction100002137.
- Tetrahydrobiopterin_deficiency type AminoAcidMetabolismDisorders.
- Tetrahydrobiopterin_deficiency type Attribute100024264.
- Tetrahydrobiopterin_deficiency type AutosomalRecessiveDisorders.
- Tetrahydrobiopterin_deficiency type Condition113920835.
- Tetrahydrobiopterin_deficiency type Disease114070360.
- Tetrahydrobiopterin_deficiency type Disorder114052403.
- Tetrahydrobiopterin_deficiency type IllHealth114052046.
- Tetrahydrobiopterin_deficiency type Illness114061805.
- Tetrahydrobiopterin_deficiency type PathologicalState114051917.
- Tetrahydrobiopterin_deficiency type PhysicalCondition114034177.
- Tetrahydrobiopterin_deficiency type State100024720.
- Tetrahydrobiopterin_deficiency type Disease.
- Tetrahydrobiopterin_deficiency type AilmentCondition.
- Tetrahydrobiopterin_deficiency type Situation.
- 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 "Niedobór tetrahydrobiopteryny".
- Tetrahydrobiopterin_deficiency label "Tetrahydrobiopterin deficiency".
- Tetrahydrobiopterin_deficiency sameAs Niedobór_tetrahydrobiopteryny.
- Tetrahydrobiopterin_deficiency sameAs m.099xtm.
- Tetrahydrobiopterin_deficiency sameAs Q7706537.
- Tetrahydrobiopterin_deficiency sameAs Q7706537.
- Tetrahydrobiopterin_deficiency sameAs Tetrahydrobiopterin_deficiency.
- Tetrahydrobiopterin_deficiency wasDerivedFrom Tetrahydrobiopterin_deficiency?oldid=586674601.
- Tetrahydrobiopterin_deficiency depiction Tetrahydrobiopterin_structure.png.
- Tetrahydrobiopterin_deficiency isPrimaryTopicOf Tetrahydrobiopterin_deficiency.
- Tetrahydrobiopterin_deficiency name "Tetrahydrobiopterin deficiency".