" /> Acyl-CoA Dehydrogenase, Short-Chain Deficiency - CISMeF





Preferred Label : Acyl-CoA Dehydrogenase, Short-Chain Deficiency;

NCIt synonyms : Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD); Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (SCAD); SCAD;

NCIt definition : A genetic disorder characterized by deficiency of the enzyme short-chain acyl-coenzyme A dehydrogenase that metabolizes short-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia, lethargy, hypotonia and failure to thrive.;

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30/07/2025


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