Statements (64)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:advocates_for |
support groups available
exist to support research |
| gptkbp:associated_with |
high levels of phenylalanine
cognitive impairment if untreated developmental delays if untreated low levels of tyrosine |
| gptkbp:caused_by |
deficiency of phenylalanine hydroxylase
|
| gptkbp:clinical_trial |
ongoing for new treatments
|
| gptkbp:collaborations |
between institutions is encouraged
|
| gptkbp:community_programs |
available for support
|
| gptkbp:community_support |
exists for families
|
| gptkbp:complications |
neurological issues
psychiatric disorders |
| gptkbp:cultural_practices |
can be a concern for individuals
|
| gptkbp:current_use |
maternal PKU
|
| gptkbp:descendant |
autosomal recessive
|
| gptkbp:diet |
requires careful planning
developed for management available to manage condition avoidance of aspartame avoidance of high-protein foods lifelong adherence required |
| gptkbp:economic_impact |
may affect job choices
|
| gptkbp:education |
is crucial for management
may require special education services |
| gptkbp:first_described_by |
1940s
|
| gptkbp:future_plans |
good with early treatment
is focused on improving treatments |
| gptkbp:genetic_diversity |
recommended for families
available for at-risk families |
| gptkbp:healthcare |
important for management
necessary throughout life |
| https://www.w3.org/2000/01/rdf-schema#label |
phenylketonuria (PKU)
|
| gptkbp:impact |
can lead to normal development with treatment
|
| gptkbp:influenced_by |
may be necessary for management
|
| gptkbp:innovation |
in treatment options
|
| gptkbp:is_a_resource_for |
available for families
|
| gptkbp:is_monitored_by |
regular blood tests required
|
| gptkbp:is_popular_in |
1 in 10,000 to 15,000 births
|
| gptkbp:lifespan |
requires lifelong management
|
| gptkbp:nutritional_value |
available for affected individuals
|
| gptkbp:promoter |
PAH
|
| gptkbp:public_awareness |
important for early detection
|
| gptkbp:receives_funding_from |
available for studies
|
| gptkbp:research |
ongoing for gene therapy
|
| gptkbp:risk_factor |
family history
ethnic background |
| gptkbp:scholarships |
important for affected individuals
important for families |
| gptkbp:screenings |
Guthrie test
critical for prevention of symptoms |
| gptkbp:social_responsibility |
newborn screening
|
| gptkbp:symptoms |
seizures
intellectual disability behavioral problems skin rashes |
| gptkbp:treatment |
under investigation
diet low in phenylalanine supplements of tyrosine special medical foods |
| gptkbp:bfsParent |
gptkb:Nutra_Sweet
gptkb:Aspartame |
| gptkbp:bfsLayer |
4
|