Maple Syrup Urine Disease (MSUD)

Maple Syrup Urine Disease (MSUD) is a disorder of branched chain amino acid metabolism that is often classified by clinical phenotype as classic, intermediate or intermittent. The classic form presents as a neonate, with the ingestion of dietary protein, with a maple syrup-like odor of cerumen, sweat and urine, irritability, poor feeding, vomiting, lethargy and a progressive encephalopathy that may result in coma with respiratory failure. The intermediate and intermittent forms are milder and may present with anorexia, poor growth, irritability or developmental delay later in infancy or childhood, frequently in response to stress; however, even patients who are without symptoms can develop a sudden life threatening coma. The intermittent form presents with encephalopathy and metabolic disturbances when the patient undergoes catabolic stress.

Tests Available

Forms and Documents

Test Details

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

Ordering

4881
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1
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
* For price inquiries please email zebras@genedx.com

References

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

Forms and Documents

Test Details

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

Ordering

4882
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
* For price inquiries please email zebras@genedx.com

References

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

Forms and Documents

Test Details

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

Ordering

4883
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
* For price inquiries please email zebras@genedx.com

References

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

Forms and Documents

Test Details

BCKDHA, BCKDHB, DBT
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Capillary Sequencing

Ordering

488
4-6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81406x2
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
* For price inquiries please email zebras@genedx.com

References

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