The recurrent p.Glu3Lys variant in <i>EHHADH</i> is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities.

ABSTRACT:

Background

The recurrent pathogenic variant c.7G>A p.Glu3Lys in the EHHADH gene is responsible for an autosomal dominant form of Fanconi renotubular syndrome. This variant leads to mislocalization of peroxisomal EHHADH protein to the mitochondria, thereby impairing mitochondrial function. To date, this variant has been reported in only two unrelated families, with affected individuals presenting with isolated renotubular Fanconi syndrome. No other pathogenic variant has been documented in this gene.

Methods

A boy followed from four months-old to twelve years-old underwent clinical evaluation, mitochondrial analyses and exome sequencing.

Results

The four-month-old infant boy presented with hypoglycemia, ketonuria, lactic acidosis and hepatic cytolysis. Three mon

SUBMITTER: Rollier P 

PROVIDER: S-EPMC12002967 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature