Acyl-coa dehydrogenase, short-chain, deficiency of
What are the first steps after a newborn screening is positive for Short chain acyl-CoA dehydrogenase deficiency (SCADD)?
If a newborn screening result suggests SCADD, the child should be evaluated for signs of the disease by their doctor or a metabolic geneticist. Signs of SCADD include poor feeding, low energy, sleepiness, low tone (floppiness), or seizures. If any of these signs are present, treatment should start immediately.
If no symptoms are present, the family should be taught about the importance of regular feeding and the importance of seeking treatment immediately if the child becomes ill (poor feeding, vomiting, low energy).
Follow-up testing on blood and urine need to be done to confirm the diagnosis and should be done whether or not the child has symptoms.
Some children with a positive newborn screening test for SCADD may end up having a different condition. The doctor should test the child for signs of these other conditions: Isobutyryl-CoA dehydrogenase (IBDH) deficiency (also referred to as isobutyrylglycinuria (IBG)) and Ethylmalonic encephalopathy (EE).
American College of Medical Genetics. (2012). Newborn Screening ACT Sheet. Retrieved from ACMG ACT Fact Sheet [Elevated C4 Acylcarnitine] Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency: https://www.acmg.net/StaticContent/ACT/C4.pdf
Wolfe L, Jethva R, Oglesbee D, et al. Short-Chain Acyl-CoA Dehydrogenase Deficiency. 2011 Sep 22 [Updated 2014 Aug 7]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. http://www.ncbi.nlm.nih.gov/books/NBK63582/