Maple Syrup Urine Disease, Type III

The clinical phenotype of Dihydrolipoamide Dehydrogenase Deficiency (DLD) or Maple Syrup Urine Disease (MSUD) Type 3 differs considerably from that seen in classic, intermediate or intermittent MSUD and ranges from severe neonatal presentation with neurological deficits to less severe presentations in childhood that include exertional fatigue between decompensation episodes. Patients may also present with severe liver failure.

Tests Available

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing


4-5 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.


  • 796.6 Abnormal findings on neonatal screening
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
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**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.


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  5. Rodriguez-Pombo et al., (2006) Hum Mutat 27:715
  6. Henneke et al., (2003) Hum Mutat 22:417