Dystonia, dopa-responsive, due to sepiapterin reductase deficiency

Preferred Label : Dystonia, dopa-responsive, due to sepiapterin reductase deficiency;

CISMeF acronym : SRD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sepiapterin reductase deficiency; SRD; Spr 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; 612349), 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; 128230) is caused by mutation in the gene encoding GTP cyclohydrolase I (GCH1; 600225), which is also a component of the biopterin synthetic pathway.;

Inheritance : Autosomal recessive; ?Autosomal dominant;

Molecular basis : Caused by mutation in the sepiapterin reductase gene (SPR, 182125.0001);

Laboratory abnormalities : Sepiapterin reductase deficiency (fibroblasts); Decreased homovanillic acid (HVA) in CSF; Elevated dihydrobiopterin in CSF; Decreased 5-hydroxyindoleacetic acid (5-HIAA) in CSF; Elevated biopterin in CSF; Elevated sepiapterin in CSF; Decreased urinary HVA, 5-HIAA, and vanillyl mandelic acid (VMA); Normal urinary pterins; No hyperphenylalaninemia; Transient hyperphenylalaninemia occurs on oral loading test with phenylalanine;

Prefixed ID : #612716;

Details

Origin ID

612716;

UMLS CUI

C0268468;

Automatic exact mappings (from CISMeF team)
- Dopa-responsive dystonia due to sepiapterin reductase deficiency [ORDO Disease]
- FRS cattle breed (organism) [Inactive SNOMED CT concept]
- Sardinian Language [NCIt concept]
- Sepiapterin reductase deficiency (disorder) [SNOMED CT concept]
- Stapedial reflex decay (procedure) [SNOMED CT concept]
- sepiapterin reductase deficiency [DO Concept]
- sepiapterin reductase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- dystonia, Dopa-Responsive, due to sepiapterin reductase deficiency [MeSH concept]
- dystonia, Dopa-Responsive, due to sepiapterin reductase deficiency [MeSH Supplementary Concept]
DO Cross reference
- sepiapterin reductase deficiency [DO Concept]
Genes related to phenotype
- Sepiapterin reductase [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Choreoathetosis [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hyperactivity [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Oculomotor apraxia [HPO term]
- Seizure [HPO term]
- Sleep disturbance [HPO term]
- Spasticity [HPO term]
- Transient hyperphenylalaninemia [HPO term]
- Tremor [HPO term]
- Variable expressivity [HPO term]
Not associated HPO term(s)
- Hyperphenylalaninemia [HPO term]
ORDO concept(s)
- Dopa-responsive dystonia due to sepiapterin reductase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder) [SNOMED CT concept]
- Dopa-responsive dystonia due to sepiapterin reductase deficiency [ORDO Disease]
- Sepiapterin reductase deficiency (disorder) [SNOMED CT concept]
- dystonia, Dopa-Responsive, due to sepiapterin reductase deficiency [MeSH Supplementary Concept]
- dystonia, Dopa-Responsive, due to sepiapterin reductase deficiency [MeSH concept]
- sepiapterin reductase deficiency [SNOMED Notion]
- sepiapterin reductase deficiency [DO Concept]

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