Classical phenylketonuria, phenylalanine hydroxylase total deficiency (Q94414): Difference between revisions
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Latest revision as of 09:33, 16 August 2026
Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterised by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional, with phenylalanine hydroxylase total deficiency.
| Language | Label | Description | Also known as |
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| default for all languages | ID_2053644170 |
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| English | Classical phenylketonuria, phenylalanine hydroxylase total deficiency |
Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterised by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional, with phenylalanine hydroxylase total deficiency. |
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CID11:ID_2053644170
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dki-india-ID_2053644170
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Concluído
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15 August 2026
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