REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population (original) (raw)

Short-chain acyl-CoA dehydrogenase (SCAD) is a crucial enzyme in mitochondrial short-chain oxidation, and its deficiency leads to a variety of clinical presentations ranging from severe metabolic crises in infants to asymptomatic cases. This report focuses on the 319C>T mutation of the ACADS gene, which presents with significant clinical heterogeneity, particularly among the Ashkenazi Jewish population, suggesting it could be a candidate founder mutation. The findings indicate that early biochemical and molecular screening is essential for prompt diagnosis and management to mitigate risks associated with the disorder.