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Ontology Browser

Term:
carnitine palmitoyltransferase I deficiency pathway (PW:0002574)
Annotations: Rat: (14) Mouse: (14) Human: (14) Chinchilla: (14) Bonobo: (14) Dog: (14) Squirrel: (14) Pig: (14)
Parent Terms Term With Siblings Child Terms
carnitine palmitoyltransferase I deficiency pathway  
An autosomal recessive disorder resulting from alterations in long chain fatty acid oxidation due to defects in the carnitine palmitoyltransferase 1A (CPT1A) enzyme.
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis pathway  
cholesterol ester storage disease pathway +   
desmosterolosis pathway  
familial lipoprotein lipase deficiency pathway  
medium chain acyl-CoA dehydrogenase deficiency 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  

Synonyms
Exact Synonyms: carnitine palmitoyl transferase deficiency type I pathway
Related Synonyms: SMP:00538
Definition Sources: OMIM:255120

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