Details of Disease

General Information of Disease (ID: DISB8C4K)

• Disease Name: Medium chain acyl-CoA dehydrogenase deficiency
• Synonyms: Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency; acyl-CoA dehydrogenase, medium-chain, deficiency OF; ACADMD; medium chain acyl CoA dehydrogenase deficiency; Mcadh deficiency; acyl-CoA dehydrogenase medium chain deficiency of; ACADM deficiency; medium-chain acyl-CoA dehydrogenase deficiency; MCAD deficiency; Acyl-CoA dehydrogenase, medium chain, deficiency of; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency; acyl-CoA dehydrogenase, medium-chain deficiency; MCAD; medium chain acyl-coenzyme A dehydrogenase deficiency; medium-chain acyl-Coenzyme A dehydrogenase deficiency; medium chain acyl-CoA dehydrogenase deficiency; MCADD
• Definition: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.
• Disease Hierarchy:
  DISU6BE1: Acyl-CoA dehydrogenase deficiency
  DISYKSRF: Genetic disease
  DISB8C4K: Medium chain acyl-CoA dehydrogenase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0008721
  MESH ID: C536038
  UMLS CUI: C0220710
  OMIM ID: 201450
  MedGen ID: 65086
  Orphanet ID: 42
  SNOMED CT ID: 128596003

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Levacecarnine hci	DMJBOCR	Approved	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CPT1B	TTDL0NY	Limited	Genetic Variation	[2]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACADS	OTGFANYQ	Strong	Biomarker	[3]
NPHS1	OT21JD3P	Strong	Genetic Variation	[4]
SOCS6	OT2O5ZBK	Strong	Biomarker	[5]
ACADM	OTA4P0FC	Definitive	Autosomal recessive	[6]
CDH15	OTJ1TO02	Definitive	Genetic Variation	[7]

References

• [1] A standard database for drug repositioning. Sci Data. 2017 Mar 14;4:170029.
• [2] Follow-up of fatty acid -oxidation disorders in expanded newborn screening era.Eur J Pediatr. 2019 Mar;178(3):387-394. doi: 10.1007/s00431-018-03315-2. Epub 2019 Jan 7.
• [3] Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation.J Inherit Metab Dis. 2003;26(7):659-70. doi: 10.1023/b:boli.0000005659.52200.c1.
• [4] Oligonucleotide ligation assay: applications to molecular diagnosis of inherited disorders.Scand J Clin Lab Invest. 2001 Apr;61(2):123-9. doi: 10.1080/00365510151097629.
• [5] Oxidative stress induction by cis-4-decenoic acid: relevance for MCAD deficiency.Free Radic Res. 2007 Nov;41(11):1261-72. doi: 10.1080/10715760701687109.
• [6] 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.
• [7] Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.Mol Genet Metab. 2010 Sep;101(1):33-9. doi: 10.1016/j.ymgme.2010.05.007. Epub 2010 Jun 9.