/dihydropteridine reductase deficiency

dihydropteridine reductase deficiency

Rare Disease

MONDO:0009862

Also Known As

6,7-dihydropteridine reductase activity diseasePKU type 2dihydropteridine reductase deficiencydisorder of 6,7-dihydropteridine reductase activityhyperphenylalaninemia due to dihydropteridine reductase deficiencyhyperphenylalaninemia, BH4-deficient Chyperphenylalaninemia, Bh4-deficient, type Cphenylketonuria type 2DHPR deficiencyHPABH4CQdpr deficiencyhyperphenylalaninemia, BH-4-deficient, Chyperphenylalaninemia, BH4-deficient, Chyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiencyquinoid dihydropteridine reductase deficiency

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.