loading...| Preferred Name |
Dihydropteridine reductase deficiency |
|
| Synonyms |
PKU type 2 |
|
| Definitions |
Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_226 |
|
| alternative_term |
PKU type 2 Phenylketonuria type 2 Hyperphenylalaninemia due to dihydropteridine reductase deficiency |
|
| definition |
Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-11:5C59.01 ICD-10:E70.1 OMIM:261630 UMLS:C0268465 |
|
| label |
Dihydropteridine reductase deficiency |
|
| notation |
Clinical subtype ORPHA:226 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_226 |
|
| prefLabel |
Dihydropteridine reductase deficiency |
|
| present_in |
Worldwide AND has_cases/families_value : 150.0 (Case) Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView | ||
| subClassOf |