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long chain acyl-CoA dehydrogenase deficiency

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description A 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.
Mondo Term and Equivalent IDs
MONDO:0020531:  long chain acyl-CoA dehydrogenase deficiency
GARD:0009700: 
MESH:C535690: 
NCIT:C84537: 
Orphanet:99900: 
SCTID:237996001: 
UMLS:C0220711: