Acyl-coa dehydrogenase, short-chain, deficiency of

Diagnosis and Testing

How do I get tested for Short chain acyl-CoA dehydrogenase deficiency (SCADD)?

Most newborn screening programs test for SCADD. You can check to see if your state provides newborn screening for SCADD at this site http://www.babysfirsttest.org/newborn-screening/conditions/short-chain-acyl-coa-dehydrogenase-deficiency

A child with an abnormal newborn screen for SCADD or children who show symptoms of SCADD will have specialized tests done to confirm the diagnosis. Analysis of acylcarnitine levels in blood and acylglycines or organic acids in urine will show if there are high levels of incompletely broken down short chain fatty acids.

Genetic testing for changes (mutations) in the ACADS gene can confirm the diagnosis. ACADS gene sequencing is offered by many labs.

A diagnosis of SCADD is made through a combination of blood and urine tests as well as genetic testing. An abnormal newborn screening result does not provide a diagnosis without additional testing.

References
  • 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
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More Diagnosis and Testing Content

Is there newborn testing for Short chain acyl-CoA dehydrogenase deficiency (SCADD)?

Is there more than one test for Short chain acyl-CoA dehydrogenase deficiency (SCADD)?

Who else in my family should I test for Short chain acyl-CoA dehydrogenase deficiency (SCADD)?

Is there newborn testing for Short chain acyl-CoA dehydrogenase deficiency (SCADD)?

Most US states include SCADD in their newborn screening programs. An abnormal newborn screening result does not provide a diagnosis without additional testing.

You can check to see if your state provides newborn screening for SCADD at this site http://www.babysfirsttest.org/newborn-screening/conditions/short-chain-acyl-coa-dehydrogenase-deficiency

Is there more than one test for Short chain acyl-CoA dehydrogenase deficiency (SCADD)?

There are 3 major kinds of testing for SCADD.

Newborn screening is done by testing for partially broken down fats (acylcarnitines) on a dried blood spot. Unusual levels of these acylcarnitines mean that more testing should be done and the child should be evaluated to make sure they do not have any symptoms. An abnormal newborn screening results does not give a diagnosis of the condition.

Testing to confirm the diagnosis and determine the severity is done in different ways. Tests on samples of blood and urine will show if there are high levels of partially broken down fatty acids.

Genetic testing can also be done to look for changes (mutations) in the gene called ACADS which makes the SCAD protein. Testing is often organized through your main doctor. However, primary doctors often refer their patients to medical geneticists and genetic counselors for testing. Genetic counselors can serve as resources for people wanted to learn more about testing for SCAD.

A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

References
  • 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/
Who else in my family should I test for Short chain acyl-CoA dehydrogenase deficiency (SCADD)?

If you have a child with SCADD, all your future children should be tested for SCADD at birth. If you have older children, it is possible that they might also have SCADD, even if they have not shown any symptoms. Ask your doctor about whether or not they should be tested. You might be referred to a medical geneticist or genetic counselor to discuss testing further. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

References
  • 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/

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