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

DLD
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Capillary Sequencing

Ordering

490
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 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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References

  1. Nellis, M and Danner, D (2001) Am J Hum Genet 68:232-237
  2. Quental et al., (2008) Mol Genet Metab 94:148-156
  3. Flaschker et al., (2007) J Inherit Metab Dis 30:903-909
  4. Nellis et al., (2003) Mol Genet Metab 80:189-195
  5. Rodriguez-Pombo et al., (2006) Hum Mutat 27:715
  6. Henneke et al., (2003) Hum Mutat 22:417