Dystonia, Dopa-responsive, Due To Sepiapterin Reductase Deficiency

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 (PAH ), but patients with SPR deficiency do not exhibit overt hyperphenylalaninemia. The lack of hyperphenylalaninemia distinguishes SPR deficiency from other disorders of BH4 synthesis (see, e.g., HPABH4A, {261640}). However, the neurologic phenotype of SPR deficiency resembles the other BH4-deficient disorders (summary by Bonafe et al., 2001 and Friedman et al., 2012).Another form of dopa-responsive dystonia (DTY5 ) is caused by mutation in the gene encoding GTP cyclohydrolase I (GCH1 ), which is also a component of the biopterin synthetic pathway.

Clinical Features

Top most frequent phenotypes and symptoms related to Dystonia, Dopa-responsive, Due To Sepiapterin Reductase Deficiency

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Growth delay
  • Nystagmus
  • Motor delay
  • Ptosis
And another 48 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Dystonia, Dopa-responsive, Due To Sepiapterin Reductase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Sepiapterin Reductase Deficiency - SPR Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

SPR
Specificity
100 %
Genes
100 %
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

SPR
Specificity
100 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
SPR.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SPR
Specificity
100 %
Genes
100 %
Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel.

By GeneDx in United States.

MTHFR, ARG1, BTD, MMACHC, OPA3, SPR, ABCD1, PTS, GALC, GBE1, CYP27A1, ARSA, TH, GCH1
Specificity
8 %
Genes
100 %
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

MTHFR, ARG1, HLCS, BCKDHA, BCKDHB, ADSL, MMACHC, MTR, MTRR, CPS1, HPRT1, DLD, COQ9, PDSS2, PDSS1, GAMT, GATM, SPR, COQ8A, COQ2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
SPR. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SPR
Specificity
100 %
Genes
100 %
Dystonia, DOPA-responsive, AR (sequence analysis of SPR gene).

By CGC Genetics in Portugal.

SPR
Specificity
100 %
Genes
100 %
Dystonia (NGS panel for 43 genes).

By CGC Genetics in Portugal.

ATP7B, AUH, PANK2, SMPD1, MECP2, SPR, TIMM8A, HEXA, GCDH, PRKN, PNKD, ARSA, NPC1, NPC2, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Sepiapterin Reductase (SR) Deficiency via SPR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SPR
Specificity
100 %
Genes
100 %
Dystonia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SPR, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, ATP1A3, PRRT2, TAF1, TUBB4A, PRKRA, ANO3, GNAL
Specificity
7 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Dystonia, DOPA-responsive, AR.

By Centogene AG - the Rare Disease Company in Germany.

SPR
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Parkinsons disease panel.

By Centogene AG - the Rare Disease Company in Germany.

SPR, HTRA2, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, FUS, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %
Parkinson all Panel.

By CeGaT GmbH in Germany.

FMR1, PTEN, COMT, POLG, PANK2, SPR, HTRA2, GRN, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, ZFYVE26, SPG11, MAPT, ATXN2, ATXN3, GCH1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Parkinson Dystonia Panel.

By CeGaT GmbH in Germany.

SPR, TH, PLA2G6, GCH1, ATP1A3, TAF1, SLC6A3, PRKRA, SLC30A10
Specificity
12 %
Genes
100 %
Dystonia Plus Syndrome Panel.

By CeGaT GmbH in Germany.

SPR, TH, GCH1, SGCE, ATP1A3, RELN, TAF1, KIF1C, TUBB4A, FTL, PRKRA, COX20, BCAP31, SLC30A10
Specificity
8 %
Genes
100 %
Dystonia All Panel.

By CeGaT GmbH in Germany.

ATP7A, ATP7B, AUH, PANK2, MECP2, SPR, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, PNKD, ARSA, ARX, NPC1, NPC2, SLC2A1, ATM , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Single gene testing SPR.

By CeGaT GmbH in Germany.

SPR
Specificity
100 %
Genes
100 %
Dystonia.

By Asper Biogene Asper Biogene LLC in Estonia.

ATP7B, PANK2, SPR, TIMM8A, GCDH, PRKN, PNKD, ARSA, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Invitae Dystonia Comprehensive Panel.

By Invitae in United States.

SPR, PRKN, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, ATP1A3, PRRT2, TUBB4A, SLC6A3, PRKRA, ANO3, GNAL
Specificity
7 %
Genes
100 %
Invitae Hereditary Parkinson's Disease and Parkinsonism Panel.

By Invitae in United States.

SPR, PARK7, PINK1, PRKN, TH, GCH1, LRRK2, SNCA, DCTN1, ATP13A2, FBXO7, SLC6A3, VPS35, PRKRA, DNAJC6
Specificity
7 %
Genes
100 %
Invitae Elevated Phenylalanine Panel.

By Invitae in United States.

SPR, PTS, QDPR, PAH, GCH1, PCBD1
Specificity
17 %
Genes
100 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, PC, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, MTRR, CPS1, CPT2, PRODH , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Invitae Hyperphenylalaninemia Panel.

By Invitae in United States.

SPR, PTS, QDPR, PAH, GCH1, PCBD1
Specificity
17 %
Genes
100 %
Invitae Neurotransmitter Disorders Panel.

By Invitae in United States.

ABAT, SPR, SLC25A22, GCSH, GLDC, AMT, GAD1, MAOA, ALDH5A1, ALDH7A1, PTS, QDPR, TH, PHGDH, GCH1, PNPO, ARHGEF9, DBH, DDC, SLC6A3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Invitae Treatable Neurometabolic Disorders Panel.

By Invitae in United States.

MTHFR, MCCC1, MCCC2, ACAT1, ARG1, HLCS, ATP7A, BTD, ATP7B, AUH, BCKDHA, BCKDHB, MMACHC, AMN, MTR, MTRR, CPS1, HSD17B10, DLD, SLC25A13 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
DYSTONIA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PANK2, SPR, PRKN, SLC2A1, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, ATP1A3, TAF1, PRKRA
Specificity
8 %
Genes
100 %
NGS panel - Parkinson.

By Genome Diagnostics VU University Medical Center in Netherlands.

COMT, POLG, SPR, HTRA2, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, MAPT, ATXN2, ATXN3, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, SYNJ1, ATP13A2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Dystonia Dyskinesia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SCP2, SPR, PNKD, TOR1A, THAP1, SGCE, ATP1A3, PRRT2, TAF1, DRD5, MR1, DRD2, SLC6A3, PRKRA
Specificity
8 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
SPR.

By Fulgent Genetics Fulgent Genetics in United States.

SPR
Specificity
100 %
Genes
100 %
Spastic Paraplegia Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, C12orf65, HSPD1, AFG3L2, SPR, REEP1, SPG7, ABCD1, PAH, GALC, SLC25A15, L2HGDH, GBE1, FXN, CYP27A1, FARS2, GJC2, PLP1, SACS , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Parkinson Disease Panel.

By Blueprint Genetics in Finland.

SPR, PARK7, PINK1, PRKN, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, ATP1A3, SYNJ1, ATP13A2, VPS13A, SLC20A2, FBXO7, SLC6A3, VPS35, PRKRA, PDGFRB , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Dystonia Panel.

By Blueprint Genetics in Finland.

SPR, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, FA2H, ATP1A3, PRRT2, DCAF17, PRKRA, PDGFRB, PDGFB, KMT2B, ANO3, BCAP31, GNAL, ADCY5
Specificity
5 %
Genes
100 %
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.

By Bioarray in Spain.

SPR
Specificity
100 %
Genes
100 %
Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency, Sequencing SPR Gene.

By Reference Laboratory Genetics in Spain.

SPR
Specificity
100 %
Genes
100 %
Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

PANK2, SPR, PRKN, SLC2A1, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, ATP1A3, TAF1, PRKRA
Specificity
8 %
Genes
100 %
Dopa-Responsive Dystonia , Panel Massive Sequencing (NGS) GCH1,TH, SPR Genes.

By Reference Laboratory Genetics in Spain.

SPR, TH, GCH1
Specificity
34 %
Genes
100 %
Sepiapterin Reductase Deficiency: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SPR
Specificity
100 %
Genes
100 %

Alternate names

Dystonia, Dopa-responsive, Due To Sepiapterin Reductase Deficiency Is also known as sepiapterin reductase deficiency;srd, spr deficiency;autosomal recessive sepiapterin reductase-deficient drd; drd due to srd; spr deficiency; sepiapterin reductase deficiency.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VON WILLEBRAND DISEASE, TYPE 2; VWD2 MUCKLE-WELLS SYNDROME; MWS MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F EHLERS-DANLOS SYNDROME TYPE 7B

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more