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long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Disease Summary
Associated Targets (3)
Tbio

2

Tdark

1


Explore Associated Targets
Mondo Description Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.
Uniprot Description The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced.
Mondo Term and Equivalent IDs
MONDO:0012173:  long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
GARD:0006867: 
NCIT:C129929: 
Orphanet:5: 
SCTID:726021008: 
UMLS:C3711645: 
UMLS:CN074230: 
UMLS:CN239369: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found