Belgian Genetic Tests database
Classic phenylketonuria
| Name: |
Classic phenylketonuria
|
| Description: |
A severe form of phenylketonuria (PKU) due to phenylalanine hydroxylase deficiency, an inborn error of amino acid metabolism, characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.
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| ORPHAcode: |
79254
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| Synonyms: |
Classic PKU
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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