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

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

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
SLC19A3	1491	606152	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.

OMIM-Ps

607483

ICD10 Code

G25.8-

Bioinformatics and clinical interpretation

No text defined