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
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
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
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 62 in total
HPO ID HPO Term
HP:0001513 Obesity
HP:0001631 Atrial septal defect
HP:0000952 Jaundice
HP:0001545 Anteriorly placed anus
HP:0000256 Macrocephaly
HP:0001629 Ventricular septal defect
HP:0001254 Lethargy
HP:0001644 Dilated cardiomyopathy
HP:0001518 Small for gestational age
HP:0001405 Periportal fibrosis
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: April 7, 2025