Phenylketonuria (Q39985): Difference between revisions
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13 August 2026
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Latest 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. |
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CID11:5C50.0
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dki-india-5C50.0
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Concluído
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13 August 2026
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