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Long chain acyl-CoA dehydrogenase deficiency
rareA genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.
- Identifiers
- MONDO:0020531 Orphanet:99900
- Also known as
- ACADL deficiency · acyl-CoA dehydrogenase, long-chain deficiency · inborn error of long-chain-acyl-CoA dehydrogenase activity · inborn long-chain-acyl-CoA dehydrogenase activity disorder · LCAD
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