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

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


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


  • 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)
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  5. Corydon M. J. et al, (2001) Pediatr Res 49: 18-23
  6. Gregersen N. et al, (2001) Hum Mutat 18:169-189