loading...| Preferred Name |
dihydropteridine reductase deficiency |
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| Synonyms |
hyperphenylalaninemia, BH4-deficient C disorder of 6,7-dihydropteridine reductase activity phenylketonuria type 2 hyperphenylalaninemia, Bh4-deficient, type C PKU type 2 6,7-dihydropteridine reductase activity disease hyperphenylalaninemia due to dihydropteridine reductase deficiency dihydropteridine reductase deficiency quinoid dihydropteridine reductase deficiency DHPR deficiency Qdpr deficiency hyperphenylalaninemia, BH-4-deficient, C hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency hyperphenylalaninemia, BH4-deficient, C HPABH4C |
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| Definitions |
Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009862 |
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| has_exact_synonym |
hyperphenylalaninemia, BH4-deficient C disorder of 6,7-dihydropteridine reductase activity phenylketonuria type 2 hyperphenylalaninemia, Bh4-deficient, type C PKU type 2 6,7-dihydropteridine reductase activity disease hyperphenylalaninemia due to dihydropteridine reductase deficiency dihydropteridine reductase deficiency |
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| has_related_synonym |
quinoid dihydropteridine reductase deficiency DHPR deficiency Qdpr deficiency hyperphenylalaninemia, BH-4-deficient, C hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency hyperphenylalaninemia, BH4-deficient, C HPABH4C |
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| label |
dihydropteridine reductase deficiency |
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| prefixIRI |
MONDO:0009862 |
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| prefLabel |
dihydropteridine reductase deficiency |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency |
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| textual definition |
Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), 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. |
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| subClassOf |