Terminology Service for NFDI4Health

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Go to external page http://purl.obolibrary.org/obo/NCIT_C84538


A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy. [ ]

Term info

Label

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Synonyms
  • Acyl-CoA Dehydrogenase, Medium-Chain Deficiency
  • MCAD
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency
  • Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Subsets

NCIT_C90259, NCIT_C99147

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C3101, http://purl.obolibrary.org/obo/NCIT_C3492

NICHD Hierarchy Term

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Preferred Name

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Semantic Type

Disease or Syndrome

UMLS CUI

C0220710

code

C84538