loading...| Preferred Name |
Maternal phenylketonuria |
|
| Synonyms |
Maternal PKU |
|
| Definitions |
A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2209 |
|
| alternative_term |
Maternal PKU Phenylketonuric embryopathy Maternal hyperphenylalaninemia Hyperphenylalaninemic embryopathy |
|
| definition |
A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 |
|
| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
OMIM:261600 UMLS:C0085547 ICD-10:E70.1 MeSH:D017042 ICD-11:5C50.02 |
|
| label |
Maternal phenylketonuria |
|
| notation |
ORPHA:2209 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_284814 http://www.orpha.net/ORDO/Orphanet_251535 http://www.orpha.net/ORDO/Orphanet_611327 |
|
| prefixIRI |
ORDO:Orphanet_2209 |
|
| prefLabel |
Maternal phenylketonuria |
|
| present_in |
Europe AND has_annual_incidence_average_value : 10.0 AND has_annual_incidence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_284814 http://www.orpha.net/ORDO/Orphanet_251535 http://www.orpha.net/ORDO/Orphanet_611327 |
|
| subClassOf |