Details of Disease

General Information of Disease (ID: DISG0PIH)

• Disease Name: Long chain acyl-CoA dehydrogenase deficiency
• Synonyms: LCAD deficiency; ACADL deficiency; acyl-CoA dehydrogenase, long-chain deficiency; rare inborn error of long-chain-acyl-CoA dehydrogenase activity; long chain acyl-CoA dehydrogenase deficiency; LCAD; long-chain acyl-CoA dehydrogenase deficiency; long-chain acyl-Coenzyme A dehydrogenase deficiency; inborn error of long-chain-acyl-CoA dehydrogenase activity; inborn long-chain-acyl-CoA dehydrogenase activity disorder
• 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.
• Disease Hierarchy:
  DISO5FAY: Inborn error of metabolism
  DISA6JBV: Disorder of fatty acid oxidation and ketogenesis
  DISQ89HN: Familial hypertrophic cardiomyopathy
  DISG0PIH: Long chain acyl-CoA dehydrogenase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0020531
  UMLS CUI: C0220711
  MedGen ID: 65087
  SNOMED CT ID: 237996001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACADL	OTP7Y0UF	Disputed	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.