Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency

Alternative Names

  • Sepiapterin Reductase Deficiency
  • SRD
  • SPR Deficiency

Associated Genes

Sepiapterin Reductase
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WHO-ICD-10 version:2010

Diseases of the nervous system

Extrapyramidal and movement disorders

OMIM Number

612716

Gene Map Locus

2p13.2

Description

SPR deficiency results in neurologic deterioration due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Clinically, affected individuals show an L-DOPA-responsive, diurnally fluctuating movement disorder usually associated with cognitive delay and severe neurologic dysfunction. BH4 is a required cofactor for the synthesis of the neurotransmitters dopamine and serotonin. BH4 is also a required cofactor for phenylalanine hydroxylase, but patients with SPR deficiency do not exhibit overt hyperphenylalaninemia. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
612716.1LebanonUnknownYes Dystonia; ScoliosisNM_003124.5:c.260C>AHomozygousAutosomal, RecessiveJalkh et al. 2019
612716.2.1EgyptFemaleYesNo Dystonia; Bradykinesia; Rigidity; DiurnalNM_003124.5:c.207C>G, NM_000791.4:c.86+59_86+60insACCTGGGCGGGACGCGCCAHeterozygous, HomozygousAutosomal, DominantShalash et al. 2017 Authors noted that t...
612716.2.2EgyptFemaleYesNo Dystonia; Bradykinesia; Rigidity; Diurna...NM_003124.5:c.207C>G, NM_000791.4:c.86+59_86+60insACCTGGGCGGGACGCGCCAHeterozygous, HomozygousAutosomal, DominantShalash et al. 2017 Sister of 612716.2.1...
612716.2.3EgyptMaleYesNo Dystonia; Rigidity; Postural tremor; Bab...NM_003124.5:c.207C>G, NM_000791.4:c.86+59_86+60insACCTGGGCGGGACGCGCCAHeterozygous, HomozygousAutosomal, DominantShalash et al. 2017 Brother of 612716.2....
612716.2.4EgyptFemaleYesNo Dystonia; Tip-toe gait; Exercise-induced...NM_003124.5:c.207C>G, NM_000791.4:c.86+59_86+60insACCTGGGCGGGACGCGCCAHeterozygous, HomozygousAutosomal, DominantShalash et al. 2017 Daughter of 612716.2...
612716.2.5EgyptMaleYesNo Tip-toe gait; Equinovarus deformityNM_003124.5:c.207C>G, NM_000791.4:c.86+59_86+60insACCTGGGCGGGACGCGCCAHeterozygous, HomozygousAutosomal, DominantShalash et al. 2017 Son of 612716.2.1 ...
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