Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
inborn error of metabolism |
| gptkbp:abbreviation |
gptkb:PKU
|
| gptkbp:affects |
phenylalanine metabolism
|
| gptkbp:canBeManagedBy |
amino acid supplements
sapropterin dihydrochloride (in some cases) special medical foods |
| gptkbp:cause |
gptkb:eczema
intellectual disability mental disorders seizures behavioral problems psychiatric disorders delayed development lighter skin and hair musty odor in breath, skin, or urine phenylalanine accumulation |
| gptkbp:causedBy |
mutation in PAH gene
|
| gptkbp:diagnosedBy |
newborn screening
|
| gptkbp:enzymeDeficiency |
gptkb:phenylalanine_hydroxylase
|
| gptkbp:firstDescribed |
gptkb:Asbjørn_Følling
1934 |
| https://www.w3.org/2000/01/rdf-schema#label |
phenylketonuria
|
| gptkbp:ICD-10_code |
gptkb:E70.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
261600
|
| gptkbp:prevalence |
1 in 10,000 to 15,000 newborns
|
| gptkbp:prevention |
early dietary intervention
|
| gptkbp:screenedAt |
newborn screening programs worldwide
|
| gptkbp:symptomsAppear |
after birth
|
| gptkbp:treatment |
low-phenylalanine diet
|
| gptkbp:untreatedLeadsTo |
severe intellectual disability
|
| gptkbp:bfsParent |
gptkb:Phenylalanine
|
| gptkbp:bfsLayer |
6
|