Lipophilic antioxidants in patients with phenylketonuria1-3 (PDF Format) Background: Low serum ubiquinone-10 concentrations have been described in phenylketonuric patients fed natural-proteinrestricted diets. Such low concentrations may be related to increased free radical damage.
Objective: We evaluated the relation between low serum ubiquinone-10 concentrations and other lipophilic antioxidants (tocopherol and retinol), selenium, glutathione peroxidase activity, and malondialdehyde concentrations as a marker of lipid peroxidation. |
| Phenylketonuria(PDF Format) Classic Phenylketonuria (PKU) is an autosomal recessive disorder that occurs in about 1 our very 14,000 people. It is more common in whites and Native Americans than in blacks, Hispanics, and Asians. This genetic disorder is characterized by large amounts of the amino acid phenylalanine in the blood and body tissues due to an absence, low level or deficiency of the enzyme phenylalanine hydroxylase (PAH). |
Consensus Development Conference on Phenylketonuria (PKU): Screening and Management(PDF Format) The National Institutes of Health (NIH) is sponsoring a Consensus Development Conference on Phenylketonuria (PKU): Screening and Management on October 16–18, 2000. PKU is a rare, inherited metabolic disorder that, if untreated, causes mental retardation.
Approximately one of every 10,000 infants in the United States is born with PKU, which usually results from a deficiency of a liver enzyme known as phenylalanine hydroxylase (PAH). This enzyme deficiency leads to elevated levels of the amino acid phenylalanine in the bloodstream. |
| The time has come: a new scene for PKU treatment(PDF Format) Some of the most important contributions from basic research to disease comprehension are those
insights derived from variations in both clinical manifestation and therapeutic response. Phenylketonuria (PKU; OMIM 261600) has always been considered to be the classical example of a simple genetic disease for which an effective therapy is possible. However, a closer look at the different phenotypic levels of the disease has brought about evidence of an unexpected complexity. Besides, PKU diet is extremely restrictive and consequently adherence to treatment is poor. In this context, some questions can be put forward: How far are we from a less burdensome but truly
effective PKU treatment? |
LNAA PowerPoint Presentations
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Double Blind Placebo Control Trial in PKU with NeoPhe |
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NeoPhe Pilot Study Results |
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Future Role of Large Neutral Amino Acids in the Transport of Phenylalanine into the Brain |
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