Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 12-11-2019
Symbol SPRD
Location 2p13.1
Name sepiapterin reductase deficiency
Corresponding gene SPR
Other symbol(s) SPR
Main clinical features
  • L-dopa-responsive dystonia is characterized by the triad of dystonia, diurnal fluctuation of signs, and dramatic response of signs to low-dose L-dopa the
  • psychomotor retardation, spasticity, dystonia, microcephaly, growth retardation and deficiency of monoamine neurotransmitter
  • dopa-responsive dystonia, neurologic deterioration due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis
  • diurnally fluctuating movement disorder usually associated with cognitive delay and severe neurologic dysfunction
  • misdiagnoses of cerebral palsy (CP) are common, but biochemical investigation of cerebrospinal fluid is the preferred method of initial investigation (PMID: 22522443))
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder metabolism/aminoacids
    Type disease
    Gene product
    Name sepiapterin reductase