Conditions / Genetic
BH4-deficient hyperphenylalaninemia C
info · Genetic
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or com
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15.
Signs and symptoms
- Global developmental delay
- Diminished tissue dihydropteridine reductase activity
- Hypertonia
- Progressive neurologic deterioration
- Microcephaly
- Dysphagia
- Choreoathetosis
- Dystonia
- Seizure
- Excessive salivation
Also known as: tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency