Publications by authors named "Corinne Belaiche"
Article Synopsis
- * Early diagnosis of DLD deficiency is crucial to prevent severe health issues like metabolic crises, liver failure, or brain complications, but diagnosing it can be challenging due to nonspecific laboratory markers.
- * In a study of pediatric patients, elevated plasma citrulline levels were found in some with DLD deficiency and none in a control group, suggesting that high citrulline could be a potential marker for diagnosing DLD deficiency in the absence of urea cycle issues. *
Isolated complex I deficiency is the most common oxidative phosphorylation defect and is associated with substantial morbidity and mortality. The diagnosis is made by enzymatic analysis and for most patients the molecular pathology remains undefined. Various cofactors and vitamins are frequently administered, but their efficacy have been difficult to assess.
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