Classical phenylketonuria, phenylalanine hydroxylase total deficiency (Q94414)
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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. |
