Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase

The EHHADH gene encodes an enzyme involved in peroxisomal beta-oxidation pathway. It is expressed in the proximal tubule. A missense mutation is described to cause autosomal dominant Fanconi syndrome type 3.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Fanconi renotubular syndrome 3



Qi C et al. (1999) Absence of spontaneous peroxisome proliferation in enoyl-CoA Hydratase/L-3-hydroxyacyl-CoA dehydrogenase-deficient mouse liver. Further support for the role of fatty acyl CoA oxidase in PPARalpha ligand metabolism.


Tolaymat A et al. (1992) Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.


Zhao S et al. (2010) Regulation of cellular metabolism by protein lysine acetylation.


Klootwijk ED et al. (2014) Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.


Hoefler G et al. (1994) cDNA cloning of the human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase bifunctional enzyme and localization to chromosome 3q26.3-3q28: a free left Alu Arm is inserted in the 3' noncoding region.

Update: Sept. 26, 2018