ArticleMolecular genetics and metabolism reports2025
The recurrent p.Glu3Lys variant in
Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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17 authors.
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Abstract
Background: The recurrent pathogenic variant c.7G>A p.Glu3Lys in the 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 months later, a Fanconi tubulopathy with nephrocalcinosis appeared. Mitochondrial respiratory chain analyses performed on hepatocytes showed a decreased activity of complex I and IV of the mitochondrial respiratory chain and a quantitative decrease of these complexes. Exome sequencing revealed the missense variant c.7G>A p.Glu3Lys, inherited from his father who was asymptomatic at 54 years old. A diet supplemented in medium-chain fatty acids was experimented. Conclusion: This case widens the phenotypic spectrum of the recurrent p.Glu3Lys variant in
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