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Ontology Browser

Term:
very long-chain acyl-CoA dehydrogenase deficiency pathway (PW:0001594)
Annotations: Rat: (14) Mouse: (14) Human: (14) Chinchilla: (14) Bonobo: (14) Dog: (14) Squirrel: (14) Pig: (14)
Parent Terms Term With Siblings Child Terms
arthritis pathway +   
bone disease pathway +   
carnitine palmitoyltransferase I deficiency pathway  
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis pathway  
cholesterol ester storage disease pathway +   
congenital limb deformities pathway +   
desmosterolosis pathway  
familial lipoprotein lipase deficiency pathway  
medium chain acyl-CoA dehydrogenase deficiency pathway  
muscular disease pathway +   
short-chain acyl-CoA dehydrogenase deficiency pathway  
Smith-Lemli-Opitz Syndrome pathway  
sphingolipidosis pathway +   
trifunctional protein deficiency pathway  
very long-chain acyl-CoA dehydrogenase deficiency pathway  
VLCAD deficiency is due to alterations in fatty acid beta oxidation pathway. It is an inherited metabolic disease due to mutations in the ACADVL gene. It appears in infancy or early childhood and is manifested as lack of energy and muscle weakness.

Synonyms
Exact Synonyms: VLCAD deficiency pathway
Related Synonyms: SMP:00540
Definition Sources: PMID:23480858

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