Gamma-butyrobetaine hydroxylase deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- BBOX1 / Butyrobetaine Gamma-Hydroxylase 1
  11p14.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Butyrobetaine gamma-hydroxylase
Disease group(s)
- 4.1 Disorders of carnitine metabolism