Phenylketonuria medical therapy
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Phenylketonuria Microchapters |
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Phenylketonuria On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Medical Therapy
If PKU is diagnosed early enough, an affected newborn can grow up with normal brain development, but only by eating a special diet low in phenylalanine for the rest of his or her life. This requires severely restricting or eliminating foods high in phenylalanine, such as breast milk, meat, chicken, fish, nuts, cheese and other dairy products. Starchy foods such as potatoes, bread, pasta, and corn must be monitored. Many diet foods and diet soft drinks that contain the sweetener aspartame must also be avoided, as aspartame consists of two amino acids: phenylalanine and aspartic acid. Some drugs such as lacosamide oral solution may contain aspartame as an ingredient.
Supplementary infant formulas are used in these patients to provide the amino acids and other necessary nutrients that would otherwise be lacking in a protein free diet. These can continue in other forms as the child grows up. (Since phenylalanine is necessary for the synthesis of many proteins, it is required but levels must be strictly controlled. In addition, tyrosine, which is normally derived from phenylalanine, must be supplemented.)
In those patients with a deficit in BH4 production, or with a PAH PAH mutation resulting in a low affinity of PAH for BH4, treatment consists of giving BH4 as a supplement; this is referred to as BH4 responsive PKU, which has been defined as a reduction of at least 30% of plasma Phe levels during a loading test with BH4, compared to the baseline Phe value.
Treatment with BH4, has been proven safe in a 7 year follow-up of PKU patients, and effective in increasing tolerance to phenylalanine.[1]
References
- ↑ Scala I, Concolino D, Casa RD, Nastasi A, Ungaro C, Paladino S; et al. (2015). "Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience". Orphanet J Rare Dis. 10 (1): 14. doi:10.1186/s13023-015-0227-8. PMC 4351928. PMID 25757997.