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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessBiotin-responsive basal ganglia disease

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Basal ganglia disease, Biotin-responsive

ID
BS0010
Number of genes
1 Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SLC19A31491NM_025243.4AR

Informations about the disease

Clinical Comment

Subacute encephalopathy, confusion, seizures, movement disorder, often after febrile illness; bilateral lesions in basal ganglia in childhood, life-threatening if untreated, symptoms can be reversed/progression prevented by high doses of biotin and thiamine.

 

Synonyms
  • Alias: Basal ganglia disease, Biotin-responsive; Encephalopathy, Thiamine-responsive (SCL19A3)
  • Alias: Biotin- or thiamine-responsive encephalopathy type 2 (SCL19A3)
  • Alias: Biotin-responsive basal ganglia disease (SCL19A3)
  • Alias: Thiamine metabolism dysfunction syndr. 2; biotin-/thiamine-resp. encephalopathy 2 (SCL19A3)
  • Allelic: Early-childhood fatal Leigh syndrome (SCL19A3)
  • Allelic: Early-infantile, lethal encephalopathy (SCL19A3)
  • Allelic: Wernicke-like encephalopathy (SCL19A3)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined