Phenylketonuria (Q39985): Difference between revisions
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A fenilcetonúria é uma doença metabólica hereditária, caracterizada pela deficiência da fenilalanina hidroxilase, enzima necessária para a transformação da fenilalanina em tirosina. Não tratada, a fenilcetonúria leva à deficiência mental, às vezes grave, assim como à hipopigmentação . A restrição dietética de fenilalanina permite que os pacientes levem uma vida quase normal. | |||
| description / en | description / en | ||
Phenylketonuria is a hereditary metabolic disease, characterised by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives. | |||
Revision as of 05:37, 13 August 2026
Phenylketonuria is a hereditary metabolic disease, characterised by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives.
| Language | Label | Description | Also known as |
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| default for all languages | 5C50.0 |
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| English | Phenylketonuria |
Phenylketonuria is a hereditary metabolic disease, characterised by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives. |
