Conditions / Genetic
BH4-deficient hyperphenylalaninemia A
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 that has_material_basis_in autosomal recessive i
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1.
Signs and symptoms
- Hyperphenylalaninemia
- Global developmental delay
- Progressive neurologic deterioration
- Hypertonia
- Bradykinesia
- Dystonia
- Seizure
- Rigidity
- Ataxia
- Irritability
Also known as: 6-pyruvoyl-tetrahydropterin synthase deficiency; HPABH4A; PTS deficiency; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency