loading...| Preferred Name | Classic phenylketonuria | |
| Synonyms |
Classic PKU |
|
| Definitions |
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. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_79254 |
|
| alternative_term |
Classic PKU |
|
| definition |
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. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79254 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-10:E70.0 OMIM:261600 ICD-11:5C50.00 MedDRA:10034875 UMLS:C0751434 |
|
| label |
Classic phenylketonuria |
|
| notation |
ORPHA:79254 Clinical subtype |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_79254 |
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| prefLabel |
Classic phenylketonuria |
|
| present_in |
Worldwide AND has_point_prevalence_average_value : 6.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 6.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 6.34 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 6.34 AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView | ||
| subClassOf |