Treating Phenylketonuria: a Single Centre Experience  

Oleh:

Giovannini, M. ; Riva, E. ; Salvatici, E. ; Fiori, L.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The Journal of International Medical Research vol. 35 no. 06 (Nov. 2007), page 742-752.
Topik: Phenylketonuria

Ketersediaan

Perpustakaan FK Nomor Panggil: J11.K.2007.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

Hyperphenylalaninaemia (HPA) is an inherited disorder that results in raised plasma phenylalanine levels with a range of severities, including phenylketonuria (PKU). Since the first attempts at treatment using a low-phenylalanine diet and after more than 50 years of research, considerable progress has been made so we are now at a stage where mental retardation caused by high plasma phenylalanine can be prevented. We must, however, be aware of the new challenges we face in managing PKU. These include: maintaining optimal growth by providing enough phenylalanine without jeopardizing the child’s psychomotor development; providing an optimal nutritional status that ensures other essential nutrients, such as long chain polyunsaturated fatty acids, are not excluded from the diet; ensuring optimal compliance to the dietary intervention; and considering patients’ quality of life. New strategies, such as tetrahydrobiopterin (BH4) supplementation, need to be evaluated with regard to safety, efficacy and expected outcomes in specific types of HPA.

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