Details of Disease

General Information of Disease (ID: DISOT51Y)

• Disease Name: Inherited fatty acid metabolism disorder
• Synonyms: disorder of fat oxidation; disorders of fatty-acid metabolism; disorder of fatty acid metabolism; inherited fatty acid metabolism disorder; fatty acid metabolism disorder
• Definition: A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.
• Disease Hierarchy:
  DISO5FAY: Inborn error of metabolism
  DISB7ID3: Inborn organic aciduria
  DISEOA7S: Lipid metabolism disorder
  DISWE0E0: Inborn disorder of amino acid and other organic acid metabolism
  DISOT51Y: Inherited fatty acid metabolism disorder
• Disease Identifiers:
  MONDO ID: MONDO_0037858
  UMLS CUI: C0268634
  MedGen ID: 468968
  SNOMED CT ID: 39929009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CPT1B	TTDL0NY	No Known	Unknown	[1]
SCN4A	TT84DRB	moderate	Biomarker	[2]
HSD17B4	TTL1WGS	Strong	Biomarker	[3]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CPT1B	OTDNRW37	No Known	Unknown	[1]
PFKM	OT1QY9JM	moderate	Biomarker	[2]
PGAM2	OT9BE03I	moderate	Biomarker	[2]
ACADM	OTA4P0FC	Strong	Genetic Variation	[4]
CPT1A	OTI862QH	Strong	Biomarker	[5]

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.
• [2] Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.Pediatr Nephrol. 2017 Dec;32(12):2273-2282. doi: 10.1007/s00467-017-3755-8. Epub 2017 Aug 5.
• [3] Peroxisomal multifunctional protein-2 deficiency causes neuroinflammation and degeneration of Purkinje cells independent of very long chain fatty acid accumulation.Neurobiol Dis. 2013 Oct;58:258-69. doi: 10.1016/j.nbd.2013.06.006. Epub 2013 Jun 15.
• [4] Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.PLoS One. 2012;7(9):e45110. doi: 10.1371/journal.pone.0045110. Epub 2012 Sep 17.
• [5] Homozygous carnitine palmitoyltransferase 1a (liver isoform) deficiency is lethal in the mouse.Mol Genet Metab. 2005 Sep-Oct;86(1-2):179-87. doi: 10.1016/j.ymgme.2005.07.021.