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
Disease Ontology
DOID:0080155
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
33 ACADL acyl-CoA dehydrogenase long chain
37 ACADVL acyl-CoA dehydrogenase very long chain
Displaying 1 entry
Gene ID Gene Symbol Description Source
11370 Acadvl acyl-Coenzyme A dehydrogenase, very long chain
Displaying all 2 entries
Gene ID Gene Symbol Description Source
25287 Acadl acyl-CoA dehydrogenase, long chain
25363 Acadvl acyl-CoA dehydrogenase, very long chain
The Human Phenotype Ontology
Displaying entries 1 - 10 of 62 in total
HPO ID HPO Term
HP:0001942 Metabolic acidosis
HP:0004756 Ventricular tachycardia
HP:0001631 Atrial septal defect
HP:0002280 Enlarged cisterna magna
HP:0001513 Obesity
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0001657 Prolonged QT interval
HP:0011675 Arrhythmia
HP:0002045 Hypothermia
HP:0000952 Jaundice
Displaying 1 entry
Gene ID Gene Symbol Description
37 ACADVL acyl-CoA dehydrogenase very long chain

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024