Thiamine transporter 2 deficiency

Synonym(s)
- Biotin-thiamine-responsive basal ganglia disease,
- thiamine metabolism dysfunction syndrome type 2
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SLC19A3 / solute carrier family 19 member 3
  2q36.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Thiamine transporter 2
Disease group(s)
- 21.2 Disorders of thiamine metabolism
Child entries
- Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
- Thiamine-responsive encephalopathy