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long chain acyl-CoA dehydrogenase deficiency (LCAD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

long chain acyl-CoA dehydrogenase deficiency

MONDO:0020531

Also known as:LCADacyl-CoA dehydrogenase, long-chain deficiencyinborn error of long-chain-acyl-CoA dehydrogenase activity

Overview

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.

Diagnosis

Biomarker and diagnostic research for long chain acyl-CoA dehydrogenase deficiency has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for long chain acyl-CoA dehydrogenase deficiency.

42 publications have been identified in PubMed for long chain acyl-CoA dehydrogenase deficiency. Research spans Basic Science / Preclinical (29%), Case Report / Case Series (24%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Laboratory research	12	29%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 5:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99900

Questions for Your Care Team

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long chain acyl-CoA dehydrogenase deficiency

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications