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).

Hyperinsulinemic hypoglycemia, familial, 4 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.

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

Phenotype severity distribution: 2 always present features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for hyperinsulinemic hypoglycemia, familial, 4.

12 publications have been identified in PubMed for hyperinsulinemic hypoglycemia, familial, 4. Research spans Case Report / Case Series (50%), Epidemiology / Natural History (33%), and Review / Meta-Analysis (8%).

Recent Publications

• Widmer A (2026). [PMID: 40705962](https://pubmed.ncbi.nlm.nih.gov/40705962/). *The Journal of clinical endocrinology and metabolism*. [Case Report / Case Series]

• Takasugi Y (2026). [PMID: 42147507](https://pubmed.ncbi.nlm.nih.gov/42147507/). *Cureus*. [Case Report / Case Series]

• Khan MA (2026). [PMID: 42220696](https://pubmed.ncbi.nlm.nih.gov/42220696/). *Cureus*. [Case Report / Case Series]

• Buhur Pirimoglu M (2025). [PMID: 40715678](https://pubmed.ncbi.nlm.nih.gov/40715678/). *Irish journal of medical science*. [Case Report / Case Series]

• Velde CD (2025). [PMID: 38963811](https://pubmed.ncbi.nlm.nih.gov/38963811/). *The Journal of clinical endocrinology and metabolism*. [Epidemiology / Natural History]

• Kaminska D (2025). [PMID: 40425033](https://pubmed.ncbi.nlm.nih.gov/40425033/). *Obesity reviews : an official journal of the International Association for the Study of Obesity*. [Review / Meta-Analysis]

• Maly J (2025). [PMID: 40287849](https://pubmed.ncbi.nlm.nih.gov/40287849/). *Journal of pediatric endocrinology &amp; metabolism : JPEM*. [Epidemiology / Natural History]

• Kattamanchi D (2024). [PMID: 39266029](https://pubmed.ncbi.nlm.nih.gov/39266029/). *BMJ case reports*. [Case Report / Case Series]

• Butnariu LI (2024). [PMID: 38791571](https://pubmed.ncbi.nlm.nih.gov/38791571/). *International journal of molecular sciences*. [Basic Science / Preclinical]

• Sozaeva LS (2024). [PMID: 39659388](https://pubmed.ncbi.nlm.nih.gov/39659388/). *JCEM case reports*. [Case Report / Case Series]