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 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 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
EHHADH

References:

1.

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

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2.

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

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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.

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4.

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

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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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6.

NCBI article

NCBI 1962 [^]
7.

OMIM.ORG article

Omim 607037 [^]
8.

Orphanet article

Orphanet ID 159556 [^]
9.

Wikipedia article

Wikipedia EN (EHHADH) [^]
Update: April 29, 2019