Present Opportunities for Treatment of Hyperphenylalaninemia
Authors:
D. Procházková
Authors place of work:
Pediatrická klinika, Lékařská fakulta Masarykovy univerzity a Fakultní nemocnice Brno
přednosta prof. MUDr. Z. Doležel, CSc.
Published in the journal:
Čes-slov Pediat 2010; 65 (7-8): 452-458.
Category:
Review
Summary
Phenylketonuria (PKU) is a hereditary disease in the metabolism of the phenylalanine aminoacid, caused by a deficit of phenylalanine hydroxylase in liver. Patients with PKU must maintain an all-life low protein diet with low phenylalanine content in food in the aim to prevent neurological damage. Adherence to the diet is often low due to bad organoleptic properties of the mixtures of aminoacids without phenylalanine as well as the low protein products. The progress in biochemistry, genetics and especially molecular genetics recently resulted in changes of therapeutic strategy in patients with PKU.
The present paper discusses the low protein diet, neutral long chain aminoacids, DHA and EPA, therapeutic postnatal repopulation of liver cells, tratrahydrobiopterin, enzyme replacement therapy by means of phenylalanine ammonia lyase (PAL) and gene therapy as a possible treatment of PKU.
Key words:
hyperphenylalaninemia, phenylketonuria, therapy, low protein diet, neutral long-chain aminoacids – LNAA, glycomacropeptide, GMP, long-chain fatty acids, DHA, EPA, therapeutic postnatal repopulation of liver cells, tetrahydrobiopterin – BH4, phenylalanine ammonia lyase – PAL, gene therapy
Zdroje
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Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
2010 Číslo 7-8
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