dihydropteridine reductase deficiency
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.
MONDO:0016543
hyperphenylalaninemia due to tetrahydrobiopterin deficiency
is_a
MONDO:0045014
tetrahydrobiopterin metabolic process disease
is_a
6,7-dihydropteridine reductase activity disease
exact
HPABH4C
related
PKU type 2
exact
dihydropteridine reductase deficiency
exact
disorder of 6,7-dihydropteridine reductase activity
exact
hyperphenylalaninemia due to dihydropteridine reductase deficiency
exact
hyperphenylalaninemia, BH-4-deficient, C
related
hyperphenylalaninemia, BH4-deficient C
exact
hyperphenylalaninemia, BH4-deficient, C
related
hyperphenylalaninemia, Bh4-deficient, type C
exact
phenylketonuria type 2
exact