acyl-CoA dehydrogenase very long-chain deficiency

A clinically heterogeneous inborn error (OMIM:201475) of mitochondrial fatty acid beta-oxidation, leading to impaired long-chain fatty acid beta-oxidation.
Major phenotypes of ACADVLD
• Severe childhood form—Early onset, high mortality and high incidence of cardiomyopathy.
• Mild childhood form—Later onset, hypoketotic hypoglycaemia, low mortality and rare incidence of cardiomyopathy.
• Adult form—Isolated muscle involvement, rhabdomyolysis, myoglobinuria; triggered by exercise or fasting.
Molecular pathology
Defects of ACADL cause long-chain acyl-CoA dehydrogenase (LCAD) deficiency

单词	acyl-coa dehydrogenase very long-chain deficiency
释义	acyl-CoA dehydrogenase very long-chain deficiency acyl-CoA dehydrogenase very long-chain deficiency A clinically heterogeneous inborn error (OMIM:201475) of mitochondrial fatty acid beta-oxidation, leading to impaired long-chain fatty acid beta-oxidation. Major phenotypes of ACADVLD • Severe childhood form—Early onset, high mortality and high incidence of cardiomyopathy. • Mild childhood form—Later onset, hypoketotic hypoglycaemia, low mortality and rare incidence of cardiomyopathy. • Adult form—Isolated muscle involvement, rhabdomyolysis, myoglobinuria; triggered by exercise or fasting. Molecular pathology Defects of ACADL cause long-chain acyl-CoA dehydrogenase (LCAD) deficiency
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