A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. [ url:http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism url:http://www.ncbi.nlm.nih.gov/mesh/68008659 http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007636 ]
Term information
- MESH:D008661
- UMLS_CUI:C0025521
- NCI:C34816
- SNOMEDCT_US_2021_09_01:86095007
DO_MGI_slim, NCIthesaurus
A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
inborn metabolism disorder
Metabolic hereditary disorder
Inborn Errors of Metabolism