long chain acyl-CoA dehydrogenase deficiency
Findings
No curated finding names long chain acyl-CoA dehydrogenase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.
Definition from the Mondo Disease Ontology (MONDO:0020531), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACADLHGNC:88
- Disputed Evidence · ClinGen · Autosomal recessive · 2024
Where it sits
Other names
7 names
Resolves to: long chain acyl-CoA dehydrogenase deficiency
- Also called
- acyl-CoA dehydrogenase, long-chain deficiencyinborn error of long-chain-acyl-CoA dehydrogenase activityinborn long-chain-acyl-CoA dehydrogenase activity disorderLCADlong-chain acyl-CoA dehydrogenase deficiencylong-chain acyl-Coenzyme A dehydrogenase deficiencyrare inborn error of long-chain-acyl-CoA dehydrogenase activity