familial hyperinsulinemic hypoglycemia 4
ORPHA: 71212
Overview
hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has material basis in mutation in the HADH gene on chromosome 4q25
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with familial hyperinsulinemic hypoglycemia 4, sourced from HPO and Orphanet clinical annotations.
Decreased 3-hydroxyacyl-CoA dehydrogenase levelHyperinsulinemic hypoglycemiaLethargyConfusionNeonatal hypotoniaHepatic steatosisIntrauterine growth retardationHypoketotic hypoglycemiaNeonatal hypoglycemiaVomitingDiarrheaHypoglycemic seizuresElevated circulating hepatic transaminase concentrationDicarboxylic aciduriaProportionate short statureHypoglycemic encephalopathyFasting hyperinsulinemiaAbnormal circulating acylcarnitine concentrationIncreased circulating free fatty acid levelIncreased C-peptide levelPigmentary retinopathyMotor delayFailure to thriveHyperammonemiaLactic acidosisDecreased circulating carnitine concentrationProlonged prothrombin timeMildly elevated creatine kinaseFeeding difficulties in infancyPeripheral neuropathyHypertrophic cardiomyopathyDilated cardiomyopathyProlonged QT intervalHepatic necrosisMyoglobinuriaAcute hepatic failure
Classification & Codes
Orphanet Code
ORPHA:71212familial hyperinsulinemic hypoglycemia 4
| Orphanet | ORPHA:71212 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO