current
QDPR:c.449A>G (p.Tyr150Cys) AND Dihydropteridine reductase deficiency
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In a patient with hyperphenylalaninemia due to dihydropteridine reductase deficiency (261630), Dianzani et al. (1998) identified a tyr150-to-cys (Y150C) mutation in compound heterozygosity with G23D (612676.0002), a mutation that is always associated with a severe phenotype in homozygous patients. This patient had an intermediate phenotype, with good response to monotherapy with BH4.
9744478
QDPR:c.449A>G (p.Tyr150Cys)
NM_000320.2:c.449A>G
NG_008763.1:g.24907A>G
NC_000004.11:g.17493951T>C
NP_000311.2:p.Tyr150Cys
missense
Y150C
TYR150CYS
4p15.3
quinoid dihydropteridine reductase
QDPR
Dihydropteridine reductase deficiency
HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY
Quinoid dihydropteridine reductase deficiency
Phenylketonuria II
HPABH4C
Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in foods that contain protein and in some artificial sweeteners. High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency. This condition also alters the levels of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain. Infants with tetrahydrobiopterin deficiency appear normal at birth, but medical problems ranging from mild to severe become apparent over time. Signs and symptoms of this condition can include intellectual disability, progressive problems with development, movement disorders, difficulty swallowing, seizures, behavioral problems, and an inability to control body temperature.
Autosomal recessive inheritance
Neonatal/infancy
current
Pathogenic
germline
human
not provided
curation
In a patient with hyperphenylalaninemia due to dihydropteridine reductase deficiency (261630), Dianzani et al. (1998) identified a tyr150-to-cys (Y150C) mutation in compound heterozygosity with G23D (612676.0002), a mutation that is always associated with a severe phenotype in homozygous patients. This patient had an intermediate phenotype, with good response to monotherapy with BH4.
9744478
QDPR, TYR150CYS
TYR150CYS
QDPR
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C