short chain acyl-CoA dehydrogenase deficiency

Summary
Definition
A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids.
Super Class
lipid metabolism disorder
External Links
Disease Ontology
DOID:0080154
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
35 ACADS acyl-CoA dehydrogenase short chain
36 ACADSB acyl-CoA dehydrogenase short/branched chain
1738 DLD dihydrolipoamide dehydrogenase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P09622 Dihydrolipoyl dehydrogenase, mitochondrial
The Human Phenotype Ontology
Displaying entries 31 - 37 of 37 in total
HPO ID HPO Term
HP:0003593 Infantile onset
HP:0001263 Global developmental delay
HP:0010695 Sutural cataract
HP:0002500 Abnormal cerebral white matter morphology
HP:0001252 Hypotonia
HP:0000709 Psychosis
HP:0004911 Episodic metabolic acidosis
Displaying 1 entry
Gene ID Gene Symbol Description
35 ACADS acyl-CoA dehydrogenase short chain

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024