Trends in enzyme therapy for phenylketonuria
Phenylketonuria (PKU) is an inborn error of amino acid metabolism caused by phenylalanine hydroxylase (PAH) deficiency. Dietary treatment has been the cornerstone for controlling systemic phenylalanine (Phe) levels in PKU for the past 4 decades. Over the years, it has become clear that blood Phe con...
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| Veröffentlicht in: | Molecular therapy 2004-08, Vol.10 (2), p.220-224 |
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| creator | Kim, Woomi Erlandsen, Heidi Surendran, Sankar Stevens, Raymond C Gamez, Alejandra Michols-Matalon, Kimberlee Tyring, Stephen K Matalon, Reuben |
| description | Phenylketonuria (PKU) is an inborn error of amino acid metabolism caused by phenylalanine hydroxylase (PAH) deficiency. Dietary treatment has been the cornerstone for controlling systemic phenylalanine (Phe) levels in PKU for the past 4 decades. Over the years, it has become clear that blood Phe concentration needs to be controlled for the life of the patient, a difficult task taking into consideration that the diet becomes very difficult to maintain. Therefore alternative models of therapy are being pursued. This review describes the progress made in enzyme replacement therapy for PKU. Two modalities are discussed, PAH and phenylalanine ammonia-lyase PAH. Developing stable and functional forms of both enzymes has proven difficult, but recent success in producing polyethylene glycol-modified forms of active and stable PAH shows promise. |
| doi_str_mv | 10.1016/j.ymthe.2004.05.001 |
| format | Article |
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Dietary treatment has been the cornerstone for controlling systemic phenylalanine (Phe) levels in PKU for the past 4 decades. Over the years, it has become clear that blood Phe concentration needs to be controlled for the life of the patient, a difficult task taking into consideration that the diet becomes very difficult to maintain. Therefore alternative models of therapy are being pursued. This review describes the progress made in enzyme replacement therapy for PKU. Two modalities are discussed, PAH and phenylalanine ammonia-lyase PAH. 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Dietary treatment has been the cornerstone for controlling systemic phenylalanine (Phe) levels in PKU for the past 4 decades. Over the years, it has become clear that blood Phe concentration needs to be controlled for the life of the patient, a difficult task taking into consideration that the diet becomes very difficult to maintain. Therefore alternative models of therapy are being pursued. This review describes the progress made in enzyme replacement therapy for PKU. Two modalities are discussed, PAH and phenylalanine ammonia-lyase PAH. Developing stable and functional forms of both enzymes has proven difficult, but recent success in producing polyethylene glycol-modified forms of active and stable PAH shows promise.</abstract><cop>United States</cop><pub>Elsevier Limited</pub><pmid>15294168</pmid><doi>10.1016/j.ymthe.2004.05.001</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Amino acids Ammonia Biopterins - analogs & derivatives Biopterins - pharmacology Capsules - chemistry Diet Drug Therapy - methods Drug Therapy - trends Enzymes Gene therapy Humans Metabolism Mutation Oral administration Pediatrics Phenylalanine Ammonia-Lyase - chemistry Phenylalanine Ammonia-Lyase - metabolism Phenylalanine Ammonia-Lyase - therapeutic use Phenylalanine Hydroxylase - chemistry Phenylalanine Hydroxylase - metabolism Phenylalanine Hydroxylase - therapeutic use Phenylketonuria Phenylketonurias - drug therapy Phenylketonurias - metabolism Polyethylene glycol Polyethylene Glycols - chemistry Trends |
| title | Trends in enzyme therapy for phenylketonuria |
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