Acetyl-CoA transporter deficiency

Synonym(s)
- Huppke-Brendel syndrome,
- congenital cataracts, hearing loss, and neurodegeneration
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SLC33A1 / Solute Carrier Family 33 Member 1
  3q25.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Acetyl-CoA transporter AT-1
Disease group(s)
- 22.1 Disorders of copper metabolism
Child entries
- Autosomal dominant spastic paraplegia type 42