nemoci-sympt/METABOLISMUS/fenylketonurie/hyperfenylalaninemie
Hyperfenylalaninemie
- Fenylalanin zvýšený jen do 0,6 mmol/l
- Zvýšené množství fenylalaninu v krvi při normální dietě pacienta
- www.wikiskripta.eu/w/Hyperfenylalaninemie
- Regular monitoring of plasma phenylalanine and tyrosine concentrations is necessary
- Targets of plasma phenylalanine of 120-360 µmol/L (2-6 mg/dL) in the first decade of life
- Essential for optimal outcome
- Phenylalanine targets in adolescence and adulthood are less clear
- Significant proportion of patients with phenylketonuria may benefit from adjuvant therapy with 6R-tetrahydrobiopterin stereoisomer
- Adult women with hyperphenylalaninemia because of the teratogenic effects of phenylalanine
- Women with phenylalanine hydroxylase deficiency considering pregnancy
- Should follow special guidelines
- www.researchgate.net/publication/51111138_Phenylalanine_hydroxylase_deficiency
