Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency

Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency also known as 2-methylbutyryl-CoA dehydrogenase deficiency is a rare disorder of isoleucine metabolism. The clinical spectrum of this disorder has not been clearly defined as few patients with SBCAD deficiency have been described. Very few symptomatic patients have been reported. Several symptomatic patients presented with acute crisis in the newborn period including lethargy, poor feeding, apnea, hypothermia, hypoglycemia, EEG and MRI abnormalities, convulsions, lactic acidosis, respiratory distress, seizures, sepsis, disseminated intravascular coagulation and cerebral hemorrhage. Another group of symptomatic patients presented after the neonatal period with symptoms that include hypotonia, motor delay, strabismus, apnea, infantile spasms, developmental delay, attention deficit hyperactivity disorder, recurrent vomiting and failure to thrive. A mother of one of the affected patients was also diagnosed with SBCAD deficiency but is healthy. Most patients have been diagnosed following positive newborn screening result for C5 elevation or were identified after the diagnosis of SBCAD in a sibling. These individuals have remained healthy, most with little or no treatment.

Tests Available

Forms and Documents

Test Details

ACADSB
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

529
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
* For price inquiries please email zebras@genedx.com

References

  1. Alfardan et al., (2010) Mol Genet Metab 100:333-338
  2. Korman, (2006) Mol Genet Metab 89:289-299
  3. Sass et al., (2008) Mol Genet Metab 93:30-35
  4. Matern et al., (2003) Pediatrics 112:74-78
  5. Korman et al., (2005) Clin Chem 51:610-617
  6. Andresen et al., (2000) Am J Hum Genet 67:1095-1103
  7. Gibson et al., (2000) Pediatr Res 47:830-3

Forms and Documents

Test Details

ACADSB
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

383
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
* For price inquiries please email zebras@genedx.com

References

  1. Alfardan et al., (2010) Mol Genet Metab 100:333-338
  2. Andresen et al., (2000) Am J Hum Genet 67:1095-1103
  3. Gibson et al., (2000) Pediatr Res 47:830-3
  4. Matern et al., (2003) Pediatrics 112:74-78
  5. Korman et al., (2005) Clin Chem 51:610-617
  6. Sass et al., (2008) Mol Genet Metab 93:30-35
  7. Korman, (2006) Mol Genet Metab 89:289-299