Likely inborn error of metabolism

Gene: EHHADH

Comment on list classification: Single family reported with additional functional data which is sufficient evidence to rate as Amber, awaiting further evidence.

Created: 4 Oct 2021, 10:37 a.m. | Last Modified: 4 Oct 2021, 10:37 a.m.

Panel Version: 2.187

PMID: 24401050 (Klootwijk et al 2014) - five-generation black family with isolated autosomal dominant Fanconi's syndrome. They found a heterozygous missense (p.E3K) mutation in EHHADH segregated with the disease. It results in a new mitochondrial targeting motif in the N-terminal portion of EHHADH. Functional studies of proximal tubular cells revealed impaired mitochondrial oxidative phosphorylation and defects in the transport of fluids and a glucose analogue across the epithelium. Further functional studies on the variant in PMID: 27160910 (Assmann et al 2016)

No other reports listed in OMIM

Created: 4 Oct 2021, 10:31 a.m. | Last Modified: 4 Oct 2021, 10:31 a.m.

Panel Version: 2.183

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Fanconi renotubular syndrome 3, OMIM:615605

Publications

• 24401050
• 27160910

I don't know

Fanconi renotubular syndrome type 3.
The EHHADH gene is included in international classification of inherited metabolic disorders (ICIMD), Disorders of peroxisomal fatty acid oxidation.
IEM Nosology Group (IEMbase): Disorders of peroxisomal β-oxidation.
Sources: Literature

Created: 23 Jul 2021, 9 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
L-bifunctional protein deficiency; Metabolic acidosis; Increased amino acids in urine

Publications

• PMID: 33340416