3-Hydroxyacyl-CoA Dehydrogenase Deficiency

3-Hydroxyacyl-CoA dehydrogenase (HADH) deficiency is a rare disorder of mitochondrial fatty acid beta- oxidation. Affected individuals typically present during the first year of life with hypoglycemia, seizures/convulsions and hyperinsulinism. A single patient has been described who did not have hyperinsulinism however this patient had a very high residual enzyme activity (35% of controls in isolated mitochondria). A Reye- like presentation and fulminant hepatic failure has also been reported. Severe developmental disabilities were observed in patients in an affected sibship when treatment was delayed. Most patients have been responsive to diazoxide, which has been reported to be effective in treating severe recurrent hypoglycemia.

Tests Available

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array


4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs


  • 796.6 Abnormal findings on neonatal screening
  • 277.8 Other specified disorders of metabolism
  • 251.1 Other specified hypoglycemia Hyperinsulinism: NOS ectopic functional Hyperplasia of pancreatic islet beta cells NOS Excludes: hypoglycemia in diabetes mellitus (249.8, 250.8) hypoglycemia in infant of diabetic mother (775.0) hypoglycemic coma (251.0) neonatal hypoglycemia (775.6) Use additional E code to identify cause, if drug-induced
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  7. Filling et al., (2008) Biochem Biophys Res Commun 368:6-11.
  8. Flanagan et al., (2011) J Clin Endocrinol Metab 96:E498-502.