Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency

Short-chain acyl-CoA dehydrogenase deficiency (SCAD) is a rare disorder of fatty acid oxidation. The presentation is variable, but the phenotype commonly includes one or more of the following: developmental delay, seizures, hypotonia, hypoglycemia, and/or failure to thrive. Some individuals are not identified until later childhood or as adults, when signs of muscle weakness and progressive myopathy may occur.

Tests Available

Forms and Documents

Test Details

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

Ordering

269
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Nagan, N. et al, (2003) Mol Gen Metab 78:239-246
  2. Pedersen, CB et al (2003) J Biol Chem 278:47449-47458
  3. Zytkovicz, T.H. et al, (2001) Clin Chem 47:1945-1955
  4. van Maldegem, B.T. et al, (2006) JAMA 296:943-952
  5. Corydon M. J. et al, (2001) Pediatr Res 49: 18-23
  6. Gregersen N. et al, (2001) Hum Mutat 18:169-189

Forms and Documents

Test Details

ACAD8, ACADS, ETFA, ETFB, ETFDH, ETHE1
  • Molecular confirmation of a suspected biochemical diagnosis.
  • Testing of patients suspected of having a creatine deficiency syndrome.
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J980
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Wolfe L, Jethva R, Oglesbee D, et al. Short-Chain Acyl-CoA Dehydrogenase Deficiency. 2011 Sep 22 [Updated 2014 Aug 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017
  2. Roe CR, Cederbaum SD, Roe DS, Sweetman L, et al. Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. Mol
  3. Gregersen et al. (2001) Hum Mutat 18 (3):169-189 (PMID: 11524729)
  4. Corydon et al. (2001) Pediatr Res 49(1): 18-23 (PMID: 11134486)
  5. Gallant et al. (2012) Mol Genet Metab 106(1) :55-61 (PMID: 22424739)
  6. Di Meo I, Lamperti C, Tiranti V. Ethylmalonic Encephalopathy. 2017 Sep 21. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  7. Rinaldo P., Cowan TP, and Matern D. Acylcarnitine profile analysis. Genetics in Medicine. 2008;10(2):151.
  8. Multiple Acyl-CoA Dehydrogenase Deficiency; MADD. omim.org. https://www.omim.org/entry/231680?search=231680&highlight=231680. Updated July 9, 2016. Accessed November 29, 2017.