title: [Novel PKU treatment methods].
abstract: Identification of a disease causing gene rarely leads to the invention of a novel therapy. Even in the case of genetic disorders or diseases greatly influenced by a hereditary component, knowledge about the genotype does not necessarily result in the invention of a novel therapy. In many cases effective treatment was introduced earlier without any existing knowledge of the molecular basis of the disease, or even without a full recognition of the pathomechanisms. Phenylketonuria is the best known example. Great expectation are connected with experimental therapy of phenylketonuria: enzymatic therapy, blocking the brain-blood barrier for phenylalanine and novel forms of low phenylalanine diet. Molecular diagnostics could be helpful in identifying patients responsive to non-standard therapy, such as tetrahydrobipterin supplementation. Novel research and development strategies will contribute to a reduction of the negative aspects of present treatment and they will facilitate normal physical a intellectual development of children with phenylketonuria, as well as to help patients in their everyday life.
authors.affiliation: Pracownia Neurodegradacji, Miedzynarodowy Instytut Biologii Molekularnej i Komórkowej, ul. Trojdena 4, 02-109 Warszawa, Poland. czarekz@iimcb.gov.pl
authors.forename: Cezary
authors.initials: C
authors.lastname: Zekanowski
authors.forename: Maria
authors.initials: M
authors.lastname: Gizewska
authors.forename: Maria
authors.initials: M
authors.lastname: Nowacka
authors.forename: Barbara
authors.initials: B
authors.lastname: Cabalska
mesh_terms: D000975:Antioxidants / Q000627:therapeutic use; D001708:Biopterins / Q000031:analogs & derivatives* / Q000627:therapeutic use; D002648:Child; D002664:Child Nutritional Physiological Phenomena; D015316:Genetic Therapy; D006801:Humans; D010649:Phenylalanine / Q000378:metabolism; D010650:Phenylalanine Ammonia-Lyase / Q000627:therapeutic use*; D010661:Phenylketonurias / Q000178:diet therapy* / Q000188:drug therapy* / Q000378:metabolism; D011379:Prognosis; D011994:Recombinant Proteins / Q000627:therapeutic use
chemical_list: D000975:Antioxidants; D011994:Recombinant Proteins; D001708:Biopterins; D010649:Phenylalanine; D010650:Phenylalanine Ammonia-Lyase; C003402:sapropterin