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.

Genetests:

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

Related Diseases:

Fanconi renotubular syndrome 3
EHHADH

References:

1.

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.

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2.

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

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3.

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

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4.

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

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5.

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.

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Update: Sept. 26, 2018