Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
inborn error of metabolism |
| gptkbp:abbreviation |
gptkb:PKU
|
| gptkbp:affects |
gptkb:nervous_system
brain development phenylalanine metabolism |
| gptkbp:cause |
gptkb:eczema
intellectual disability mental disorders seizures developmental delay microcephaly behavioral problems fair skin phenylalanine accumulation light eyes light hair |
| gptkbp:causedBy |
mutation in PAH gene
|
| gptkbp:class |
rare disease
|
| gptkbp:complication |
congenital heart defects in offspring
growth retardation in offspring intellectual disability in offspring maternal PKU syndrome microcephaly in offspring |
| gptkbp:containsGene |
gptkb:PAH
|
| gptkbp:detects |
gptkb:Guthrie_test
tandem mass spectrometry phenylalanine blood level measurement |
| gptkbp:diagnosedBy |
blood test
newborn screening |
| gptkbp:firstDescribed |
gptkb:Asbjørn_Følling
1934 |
| gptkbp:hasEnzymeDeficiency |
gptkb:phenylalanine_hydroxylase
|
| https://www.w3.org/2000/01/rdf-schema#label |
phenylketonuria (PKU)
|
| gptkbp:ICD-10_code |
gptkb:E70.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D010661
|
| gptkbp:monitors |
regular blood phenylalanine levels
|
| gptkbp:OMIM |
261600
|
| gptkbp:prevalence |
1 in 10,000 to 15,000 newborns in the US
|
| gptkbp:prevention |
early dietary management
|
| gptkbp:riskFactor |
consanguinity
|
| gptkbp:symptom |
musty odor in breath, skin, or urine
|
| gptkbp:synonym |
gptkb:PKU
Følling's disease |
| gptkbp:treatment |
low-phenylalanine diet
pegvaliase sapropterin dihydrochloride special medical formula |
| gptkbp:bfsParent |
gptkb:BioMarin_Pharmaceutical
|
| gptkbp:bfsLayer |
7
|