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 1 - 10 of 37 in total
HPO ID HPO Term
HP:0001332 Dystonia
HP:0003198 Myopathy
HP:0000750 Delayed speech and language development
HP:0011968 Feeding difficulties
HP:0001638 Cardiomyopathy
HP:0000648 Optic atrophy
HP:0006929 Hypoglycemic encephalopathy
HP:0001508 Failure to thrive
HP:0012758 Neurodevelopmental delay
HP:0001254 Lethargy
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