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

Ordering

508
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.