Association of Quality of Life with Serum Phenylalanine Level and Socioeconomic Status in Patients with Phenylketonuria: A Review
Phenylketonuria or PKU has an important place in medical history as the first congenital metabolic disorder. It is a genetic defect in the phenylalanine hydroxylase enzyme existing in the liver and kidneys which is responsible for the conversion of phenylalanine to tyrosine. Deficiency of the enzyme...
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| Format: | Article |
| Language: | English |
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Shiraz University of Medical Sciences
2019-09-01
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| Series: | International Journal of Nutrition Sciences |
| Subjects: | |
| Online Access: | https://ijns.sums.ac.ir/article_45434_7e42190a7759a72973a9d3a5dddd0379.pdf |
| _version_ | 1819142158661189632 |
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| author | Fatemeh Fooladi Zahra Sohrabi Marzieh Akbarzadeh |
| author_facet | Fatemeh Fooladi Zahra Sohrabi Marzieh Akbarzadeh |
| author_sort | Fatemeh Fooladi |
| collection | DOAJ |
| description | Phenylketonuria or PKU has an important place in medical history as the first congenital metabolic disorder. It is a genetic defect in the phenylalanine hydroxylase enzyme existing in the liver and kidneys which is responsible for the conversion of phenylalanine to tyrosine. Deficiency of the enzyme results in accumulation of phenylalanine and its metabolites in the blood and other tissues. If left untreated, mental retardation, speech delays, eczema, seizures, behavioral abnormalities, etc would be expected. In PKU, proper nutrition is the only treatment of choice to prevent complications. The treatment is based on a low-protein diet, and elimination of all protein-rich foods to prevent severe mental retardation. Dietary changes in PKU are permanent through the life. By controlling the diet, we reach disease control too. The metabolic control in childhood and adolescence is related to patients’ quality of life, and their mental status. Even in patients who resume treatment after a period of free diet, an enhancement in the quality of life is observed correlated with the phenylalanine level, in a way that when the phenylalanine level is between 2 and 6 mg/dL, the patients would have a higher quality of life. Moreover, the higher the patients’ phenylalanine level, the lower the quality of life scores. Similarly, phenylalanine levels are associated with patients’ social skills. The lower is the patients’ phenylalanine level, the higher would be the social skills. |
| first_indexed | 2024-12-22T12:05:54Z |
| format | Article |
| id | doaj.art-f2a514d9fb5942fa8ac8ac6bd20ba261 |
| institution | Directory Open Access Journal |
| issn | 2538-1873 2538-2829 |
| language | English |
| last_indexed | 2024-12-22T12:05:54Z |
| publishDate | 2019-09-01 |
| publisher | Shiraz University of Medical Sciences |
| record_format | Article |
| series | International Journal of Nutrition Sciences |
| spelling | doaj.art-f2a514d9fb5942fa8ac8ac6bd20ba2612022-12-21T18:26:27ZengShiraz University of Medical SciencesInternational Journal of Nutrition Sciences2538-18732538-28292019-09-014310911210.30476/ijns.2019.83209.103245434Association of Quality of Life with Serum Phenylalanine Level and Socioeconomic Status in Patients with Phenylketonuria: A ReviewFatemeh Fooladi0Zahra Sohrabi1Marzieh Akbarzadeh2Nutrition Research Center, School of Nutrition and Food Sciences, Shiraz University of Medical Sciences, Shiraz, IranNutrition Research Center, School of Nutrition and Food Sciences, Shiraz University of Medical Sciences, Shiraz, IranNutrition Research Center, School of Nutrition and Food Sciences, Shiraz University of Medical Sciences, Shiraz, IranPhenylketonuria or PKU has an important place in medical history as the first congenital metabolic disorder. It is a genetic defect in the phenylalanine hydroxylase enzyme existing in the liver and kidneys which is responsible for the conversion of phenylalanine to tyrosine. Deficiency of the enzyme results in accumulation of phenylalanine and its metabolites in the blood and other tissues. If left untreated, mental retardation, speech delays, eczema, seizures, behavioral abnormalities, etc would be expected. In PKU, proper nutrition is the only treatment of choice to prevent complications. The treatment is based on a low-protein diet, and elimination of all protein-rich foods to prevent severe mental retardation. Dietary changes in PKU are permanent through the life. By controlling the diet, we reach disease control too. The metabolic control in childhood and adolescence is related to patients’ quality of life, and their mental status. Even in patients who resume treatment after a period of free diet, an enhancement in the quality of life is observed correlated with the phenylalanine level, in a way that when the phenylalanine level is between 2 and 6 mg/dL, the patients would have a higher quality of life. Moreover, the higher the patients’ phenylalanine level, the lower the quality of life scores. Similarly, phenylalanine levels are associated with patients’ social skills. The lower is the patients’ phenylalanine level, the higher would be the social skills.https://ijns.sums.ac.ir/article_45434_7e42190a7759a72973a9d3a5dddd0379.pdfphenylketonuriaquality of lifephenylalaninediet |
| spellingShingle | Fatemeh Fooladi Zahra Sohrabi Marzieh Akbarzadeh Association of Quality of Life with Serum Phenylalanine Level and Socioeconomic Status in Patients with Phenylketonuria: A Review International Journal of Nutrition Sciences phenylketonuria quality of life phenylalanine diet |
| title | Association of Quality of Life with Serum Phenylalanine Level and Socioeconomic Status in Patients with Phenylketonuria: A Review |
| title_full | Association of Quality of Life with Serum Phenylalanine Level and Socioeconomic Status in Patients with Phenylketonuria: A Review |
| title_fullStr | Association of Quality of Life with Serum Phenylalanine Level and Socioeconomic Status in Patients with Phenylketonuria: A Review |
| title_full_unstemmed | Association of Quality of Life with Serum Phenylalanine Level and Socioeconomic Status in Patients with Phenylketonuria: A Review |
| title_short | Association of Quality of Life with Serum Phenylalanine Level and Socioeconomic Status in Patients with Phenylketonuria: A Review |
| title_sort | association of quality of life with serum phenylalanine level and socioeconomic status in patients with phenylketonuria a review |
| topic | phenylketonuria quality of life phenylalanine diet |
| url | https://ijns.sums.ac.ir/article_45434_7e42190a7759a72973a9d3a5dddd0379.pdf |
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