Conditions / Genetic
sepiapterin reductase deficiency
info · Genetic
A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gen
A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency.
Signs and symptoms
- Global developmental delay
- Reduced sepiapterin reductase activity in cultured fibroblasts
- Spasticity
- Dystonia
- Seizure
- Sleep disturbance
- Ataxia
- Transient hyperphenylalaninemia
- Depression
- Aggressive behavior
Also known as: DRD due to SRD; SPR deficiency; SRD; dopa-responsive dystonia due to sepiapterin reductase deficiency