due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia

mutation in sepiapterin reductase

Also Known As:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency; Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency; Sepiapterin Reductase Deficiency; Spr Deficiency

Networked: 28 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Dyskinesias: 7807
    - Dystonia: 5088
      - due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia: 28
  - Neurobehavioral Manifestations: 1586
    - Psychomotor Disorders: 231
      - due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia: 28
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Dyskinesias: 7807
      - Dystonia: 5088
        due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia: 28
    - Neurobehavioral Manifestations: 1586
      - Psychomotor Disorders: 231
        due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia: 28
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia: 28
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia: 28
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Psychomotor Disorders: 231
    - due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia: 28

Related Diseases

1.	Cognitive Dysfunction
2.	Parkinsonian Disorders (Parkinsonism)
3.	Tremor (Tremors)
4.	Phenylketonurias (Phenylketonuria)
5.	Movement Disorders (Movement Disorder)

Experts

1.	Blau, Nenad: 7 articles (01/2021 - 02/2002)
2.	Friedman, Jennifer: 5 articles (11/2021 - 12/2006)
3.	Hoffmann, Georg F: 5 articles (11/2021 - 11/2006)
4.	Opladen, Thomas: 5 articles (11/2021 - 11/2012)
5.	Thöny, Beat: 5 articles (01/2021 - 02/2002)
6.	Leuzzi, Vincenzo: 3 articles (11/2021 - 08/2015)
7.	Pons, Roser: 3 articles (11/2021 - 11/2017)
8.	Hyland, Keith: 3 articles (04/2012 - 12/2006)
9.	Burlina, Alberto: 2 articles (11/2021 - 01/2020)
10.	Cortès-Saladelafont, Elisenda: 2 articles (11/2021 - 01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia:

1.	Neurotransmitter Agents (Neurotransmitter)IBA 01/01/2021 - "Autosomal recessive variants observed in the PTS (199 variants), PCBD1 (32 variants), and QDPR (141 variants) genes lead to HPA concomitant with central monoamine neurotransmitter deficiency, while SPR deficiency (104 variants) presents without hyperphenylalaninemia. " 08/15/2020 - "Sepiapterin reductase deficiency (SR) is a rare inborn disorder of neurotransmitter metabolism. " 05/01/2017 - "Sepiapterin reductase deficiency is a rare, under-recognized, autosomal recessively inherited disorder of neurotransmitter metabolism. " 01/01/2014 - "Sepiapterin reductase deficiency is a rare, but treatable inherited disorder of tetrahydrobiopterin and neurotransmitter metabolism. " 03/01/2010 - "We examine the sleep, sleep-wake rhythms, CSF neurotransmitters, and melatonin profile in a patient with sepiapterin reductase deficiency. "
2.	sapropterin (tetrahydrobiopterin)FDA Link 09/01/2001 - "Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency." 11/01/2019 - "Dopa-responsive dystonia due to sepiapterin reductase deficiency (OMIM#612716) is caused by recessive mutations in the gene encoding sepiapterin reductase (SPR), which plays an important role in the biosynthesis of tetrahydrobiopterin (BH4). " 01/01/2014 - "Sepiapterin reductase deficiency is a rare, but treatable inherited disorder of tetrahydrobiopterin and neurotransmitter metabolism. " 01/01/2015 - "Sepiapterin reductase deficiency (SRD) was characterized by a defect in tetrahydrobiopterin (BH4), the cofactor of several hydroxylases needed for the synthesis of neurotransmitters. " 09/01/2022 - "Sepiapterin reductase deficiency (SRD) causes central nervous system symptoms due to dopamine and serotonin depletion because sepiapterin reductase plays an important role in tetrahydrobiopterin biosynthesis. "
3.	Levodopa (L Dopa)FDA LinkGeneric 04/01/2012 - "Sepiapterin reductase deficiency (SRD) is an under-recognized levodopa-responsive disorder. " 01/01/2012 - "Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy." 12/12/2006 - "Sepiapterin reductase deficiency (SRD) is a rare, treatable disorder of monoamine metabolism with cognitive delay and l-dopa responsive movement disorder. " 01/01/2012 - "Patients with the dystonia plus syndrome DYT5 display levodopa-responsive dystonia sometimes associated with tremor or parkinsonism (DYT5a, mutations in GCH1); a more severe phenotype with psychomotor involvement can be seen in recessive forms (DYT5b with TH mutations, SPR-deficiency syndrome). "
4.	Dihydroxyphenylalanine (Dopa)IBA 03/01/2007 - "Felice, A congenital dopa responsive motor disorder: a Maltese variant due to sepiapterin reductase deficiency, Brain 128 (Pt10) (2005) 2291-2296.] has also been identified at high frequency (4.6%) in this population. " 01/01/2012 - "We report a 4-year-old girl heterozygous for X-linked adrenoleukodystrophy (ALD) who displayed dopa-responsive motor symptoms and was subsequently diagnosed with sepiapterin reductase deficiency (SPR; OMIM 182125). " 10/01/2005 - "Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder." 12/12/2006 - "Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency."
5.	Guanosine Triphosphate (GTP)IBA 06/01/2021 - "However, HPA is conspicuously absent in autosomal-dominant guanosine triphosphate cyclohydrolase 1 deficiency and sepiapterin reductase deficiency. " 01/01/2020 - "Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH4 deficiencies, apart from autosomal dominant guanosine triphosphate cyclohydrolase I deficiency and sepiapterin reductase deficiency. " 11/07/2017 - "A total of 18 patients were studied: 14 with autosomal dominant and recessive guanosine triphosphate cyclohydrolase-I deficiency; 3 with sepiapterin reductase deficiency; and 1 with aromatic L-amino acid decarboxylase deficiency. "
6.	sepiapterinIBA 08/01/2015 - "Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency." 02/01/2002 - "Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency." 09/01/2022 - "Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency."
7.	Serotonin (5 Hydroxytryptamine)IBA 11/07/2017 - "Further 11 patients were studied after receiving serotoninergic treatment (serotonin precursors, monoamine oxidase inhibitors, selective serotonin re-uptake inhibitors): 5 with aromatic L-amino acid decarboxylase deficiency; 1 with sepiapterin reductase deficiency; 3 with dihydropteridine reductase deficiency; and 2 with 6-pyruvoyltetrahydropterin synthase deficiency. " 09/01/2022 - "Sepiapterin reductase deficiency (SRD) causes central nervous system symptoms due to dopamine and serotonin depletion because sepiapterin reductase plays an important role in tetrahydrobiopterin biosynthesis. "
8.	PterinsIBA 11/01/2006 - "Sepiapterin reductase deficiency has recently been recognized as a treatable, inborn error of pterin metabolism. " 08/15/2003 - "However, patients with sepiapterin reductase deficiency show normal urinary excretion of pterins without hyperphenylalaninemia, suggesting that other enzymes catalyze the two reduction steps. "
9.	EnzymesIBA 04/01/2006 - "Whereas the number of cases of neuropsychological disorders resulting from deficiencies of other catalytic enzymes involved in BH(4) biosynthesis and metabolism has been increasing, only a handful of cases of SPR deficiency have been reported, and the role of SPR in BH(4) biosynthesis in vivo has been poorly understood. " 08/15/2003 - "However, patients with sepiapterin reductase deficiency show normal urinary excretion of pterins without hyperphenylalaninemia, suggesting that other enzymes catalyze the two reduction steps. "
10.	Dopamine (Intropin)FDA LinkGeneric 01/01/2015 - "Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency." 09/01/2022 - "Sepiapterin reductase deficiency (SRD) causes central nervous system symptoms due to dopamine and serotonin depletion because sepiapterin reductase plays an important role in tetrahydrobiopterin biosynthesis. "

Therapies and Procedures

1.	Therapeutics 11/01/2006 - "Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy."