Classical phenylketonuria, phenylalanine hydroxylase partial deficiency (Q94405): Difference between revisions
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A fenilcetonúria (PKU) é uma doença genética metabólica autossômica recessiva caracterizada por uma mutação no gene da enzima hepática fenilalanina hidroxilase (PAH), tornando-a não funcional, com deficiência parcial da fenilalanina hidroxilase. | |||
| description / en | description / en | ||
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 partial deficiency. | |||
Revision as of 09:32, 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 partial deficiency.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2000382057 |
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| English | Classical phenylketonuria, phenylalanine hydroxylase partial 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 partial deficiency. |
