very long chain acyl-CoA dehydrogenase deficiency

Summary
Synonym
  • VLCAD deficiency
Definition
A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids.
Super Class
lipid metabolism disorder
External Links
Disease Ontology
DOID:0080155
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
33 ACADL acyl-CoA dehydrogenase long chain
37 ACADVL acyl-CoA dehydrogenase very long chain
1374 CPT1A carnitine palmitoyltransferase 1A
1375 CPT1B carnitine palmitoyltransferase 1B
1376 CPT2 carnitine palmitoyltransferase 2
23175 LPIN1 lipin 1
56994 CHPT1 choline phosphotransferase 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 62 in total
HPO ID HPO Term
HP:0002876 Episodic tachypnea
HP:0001649 Tachycardia
HP:0009045 Exercise-induced rhabdomyolysis
HP:0001987 Hyperammonemia
HP:0012531 Pain
HP:0001678 Atrioventricular block
HP:0003236 Elevated circulating creatine kinase concentration
HP:0001545 Anteriorly placed anus
HP:0002098 Respiratory distress
HP:0000256 Macrocephaly
Displaying 1 entry
Gene ID Gene Symbol Description
37 ACADVL acyl-CoA dehydrogenase very long chain

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024