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gptkbp:instanceOf
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gptkb:genetic_disorder
gptkb:inborn_error_of_metabolism
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gptkbp:abbreviation
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gptkb:PKU
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gptkbp:affects
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phenylalanine metabolism
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gptkbp:canBeManagedBy
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amino acid supplements
sapropterin dihydrochloride (in some cases)
special medical foods
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gptkbp:cause
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gptkb:eczema
gptkb:intellectual_disability
mental disorders
seizures
behavioral problems
psychiatric disorders
delayed development
lighter skin and hair
musty odor in breath, skin, or urine
phenylalanine accumulation
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gptkbp:causedBy
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mutation in PAH gene
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gptkbp:diagnosedBy
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newborn screening
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gptkbp:enzymeDeficiency
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gptkb:phenylalanine_hydroxylase
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gptkbp:firstDescribed
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gptkb:Asbjørn_Følling
1934
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gptkbp:ICD-10_code
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gptkb:E70.0
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gptkbp:inheritance
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autosomal recessive
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gptkbp:OMIM
|
261600
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gptkbp:prevalence
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1 in 10,000 to 15,000 newborns
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gptkbp:prevention
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early dietary intervention
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gptkbp:screenedAt
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newborn screening programs worldwide
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gptkbp:symptomsAppear
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after birth
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gptkbp:treatment
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low-phenylalanine diet
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gptkbp:untreatedLeadsTo
|
severe intellectual disability
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gptkbp:bfsParent
|
gptkb:Newborn_Screening
gptkb:Nutritional_and_Metabolic_Diseases
gptkb:Synthetic_Biotic_medicines
gptkb:Guthrie_test
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gptkbp:bfsLayer
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7
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https://www.w3.org/2000/01/rdf-schema#label
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phenylketonuria
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