IllnessBiotin-responsive basal ganglia disease
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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
SLC19A3 | 1491 | NM_025243.4 | AR |
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
G25.8-
Bioinformatics and clinical interpretation
No text defined