Fenylketonurie
- nemoci-sympt/METABOLISMUS/fenylketonurie/klasicka-fku
- nemoci-sympt/METABOLISMUS/fenylketonurie/mirna-fku
- nemoci-sympt/METABOLISMUS/fenylketonurie/benigni-fku
- nemoci-sympt/METABOLISMUS/fenylketonurie/variantni-fku
- nemoci-sympt/METABOLISMUS/fenylketonurie/hyperfenylalaninemie
- nemoci-sympt/METABOLISMUS/fenylketonurie/atypicika-fku
- nemoci-sympt/METABOLISMUS/fenylketonurie/biopterinova-deficience-bez-HPA
- nemoci-sympt/METABOLISMUS/fenylketonurie/vysetreni
Terapie k dietě
Podávání velkých neutrálních aminokyselin (LNAA)
- Kompetitivně blokují transport fenylalaninu do mozku
- Patients who have suboptimal dietary treatment
- May benefit to some degree from consuming large neutral amino acids
- May block phenylalanine entry into the brain
- May also result in a modest lowering of plasma phenylalanine levels.
Saproterin (brand name Kuvan)
- Syntetický derivát tetrahydrobiopterinu
- A medication approved by the FDA in 2007
- Shown to increase phenylalanine tolerance in about 25% of patients
- Indicated to reduce blood phenylalanine levels in patients with hyperphenylalaninemia (HPA) caused by tetrahydrobiopterin (BH4)–responsive phenylketonuria (PKU)
- Some patients with PKU experience significant lowering of plasma phenylalanine levels after administration of sapropterin
- Patients with some residual enzyme activity are more likely to respond than are patients with no residual enzyme.
Pegvaliase (Palynziq)
- PEGylated phenylalanine ammonia lyase (PAL)
- Substitutes for the deficient PAH enzyme activity in patients with PKU
- Reduces blood phenylalanine concentrations
Transplantace jater
- Zřídka pro velkou riskantnost
Genová terapie
- Stále ve stadiu výzkumu
Pegvaliase-pqpz (brand name Palynziq)
- An enzyme therapy drug approved by the FDA in 2018
- Used to aid adults with PKU with uncontrolled blood levels
- Many other therapies are in the trial phase.
