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3-hydroxyacyl-CoA dehydrogenase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

3-hydroxyacyl-CoA dehydrogenase deficiency

MONDO:0017715

Find Clinical TrialsTrials

Overview

GeneticsAutosomal recessive · HADH (chr 4)

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Hepatic steatosis, Low muscle tone (hypotonia), Hypoglycemic seizures, and Hypoglycemic encephalopathy and 11 more.

Organ System	Phenotype Count	Example Features
Digestive system	4	Hepatic steatosis, Hepatic necrosis, Feeding difficulties in infancy

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HADH encodes hydroxyacyl-CoA dehydrogenase (314 aa). Mitochondrial fatty acid beta-oxidation enzyme that catalyzes the third step of the beta-oxidation cycle for medium and short-chain 3-hydroxy fatty acyl-CoAs (C4 to C10). Highest expression in Muscle Skeletal (55.6 TPM) and Adipose Visceral Omentum (50.9 TPM).

3-hydroxyacyl-CoA dehydrogenase deficiency is associated with mutations in the HADH gene on chromosome 4.

The HADH protein participates in MLCL is acylated to CL by HADH (IM), (S)-3-Hydroxydodecanoyl-CoA+NAD = 3-Oxododecanoyl-CoA+NADH+H, and (S)-Hydroxydecanoyl-CoA+NAD = 3-Oxodecanoyl-CoA+NADH+H pathways.

HADH is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for HADH is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for 3-hydroxyacyl-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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

26 publications have been identified in PubMed for 3-hydroxyacyl-CoA dehydrogenase deficiency. Research spans Case Report / Case Series (31%), Basic Science / Preclinical (27%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Patient case studies	8	31%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 5:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:231530

Orphanet

European rare disease database

Orphanet:309127

GARD

Genetic and Rare Diseases Info Center

GARD:21319

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

3-hydroxyacyl-CoA dehydrogenase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA

3-hydroxyacyl-CoA dehydrogenase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA