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long chain acyl-CoA dehydrogenase deficiency

^ http://purl.obolibrary.org/obo/MONDO_0020531

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. [ NCIT:C84537 ]

Term info

database cross reference
  • UMLS:C0220711 (Orphanet:99900/e)
  • SCTID:237996001 (MONDO:equivalentTo)
  • MESH:C535690 (Orphanet:99900/e)
  • NCIT:C84537 (MONDO:equivalentTo)
  • GARD:0009700 (MONDO:shared-umls-xref)
  • Orphanet:99900 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
LCAD [ Orphanet:99900 ]

definition

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.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0220711, http://purl.obolibrary.org/obo/NCIT_C84537, http://identifiers.org/snomedct/237996001, http://identifiers.org/mesh/C535690, http://purl.obolibrary.org/obo/Orphanet_99900

has exact synonym

acyl-CoA dehydrogenase, long-chain deficiency, long-chain acyl-Coenzyme A dehydrogenase deficiency, rare inborn error of long-chain-acyl-CoA dehydrogenase activity, LCAD, inborn long-chain-acyl-CoA dehydrogenase activity disorder, long-chain acyl-CoA dehydrogenase deficiency, long chain acyl-CoA dehydrogenase deficiency, inborn error of long-chain-acyl-CoA dehydrogenase activity

has related synonym

ACADL deficiency, LCAD deficiency

id

MONDO:0020531