L-bifunctional protein deficiency

Synonym(s)
- Fanconi renotubular syndrome type 3
Type

Disease
External link(s)
- IEMbase
Gene
- EHHADH / Enoyl-CoA Hydratase And 3-Hydroxyacyl CoA Dehydrogenase
  3q27.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Bifunctional enzyme involved in fatty acid beta-oxidation
Disease group(s)
- 14.2 Disorders of peroxisomal fatty acid oxidation