hyperinsulinemic hypoglycemia, familial, 4
Findings
No curated finding names hyperinsulinemic hypoglycemia, familial, 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene.
Definition from the Mondo Disease Ontology (MONDO:0012382), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased 3-hydroxyacyl-CoA dehydrogenase levelHPOHP:0100950
- Obligate (100% of cases)
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient · Neonatal onset
- Hyperinsulinemic hypoglycemiaHPOHP:0000825
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Hypoglycemic seizuresHPOHP:0002173
- 1 of 1 reported patient · Infantile onset
- 1 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal circulating fatty acylcarnitine concentrationHPOHP:0012071
- Very frequent (80% to 99% of cases)
- ConfusionHPOHP:0001289
Show the remaining 26
- Hypoglycemic encephalopathyHPOHP:0006929
- Very frequent (80% to 99% of cases)
- Hypoketotic hypoglycemiaHPOHP:0001985
- Very frequent (80% to 99% of cases)
- Increased circulating free fatty acid levelHPOHP:0030781
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- LethargyHPOHP:0001254
- Very frequent (80% to 99% of cases)
- Neonatal hypoglycemiaHPOHP:0001998
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.
- HADHHGNC:4799
- Definitive · ClinGen · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: hyperinsulinemic hypoglycemia, familial, 4
- Also called
- HADH hyperinsulinemic hypoglycemia (disease)hyperinsulinemic hypoglycemia (disease) caused by mutation in HADHhyperinsulinemic hypoglycemia due to HADH deficiencyhyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyhyperinsulinemic hypoglycemia, familial, type 4hyperinsulinism due to glutamodehydrogenase deficiencyhyperinsulinism due to SCHAD deficiencyhyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiencyhyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency