Mitochondrial thiamine pyrophosphate transporter deficiency

Synonym(s)
- Amish lethal microcephaly, thiamine metabolism dysfunction syndrome type 3 (severe),
- bilateral striatal necrosis and progressive polyneuropathy, thiamine metabolism dysfunction syndrome type 4 (milder)
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SLC25A19 / Solute Carrier Family 25 Member 19
  17q25.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial thiamine pyrophosphate carrier
Disease group(s)
- 21.2 Disorders of thiamine metabolism
Child entries
- Progressive polyneuropathy with bilateral striatal necrosis