Acyl-coa dehydrogenase, short-chain, deficiency of
Treatment
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).
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/
More Treatment Content
Is there a treatment for childhood onset Short chain acyl-CoA dehydrogenase deficiency (SCADD)?
Is there a treatment for adult Short chain acyl-CoA dehydrogenase deficiency (SCADD)?
What are the first steps after a person has been diagnosed with Short chain acyl-CoA dehydrogenase deficiency (SCADD)?
The next steps after a person is diagnosed with SCADD depend on the age of the individual and the symptoms that they have had or are having. For example, people with the severe forms of the condition who have symptoms of low blood sugar or metabolic crisis should be given intravenous (IV) glucose, a form of sugar that the child can burn for energy, immediately.
Individuals who are not currently having symptoms may need to see metabolic genetics specialist and metabolic dietitian, to learn about the condition, its symptoms, and treatment and should make sure that their health care providers are aware of the condition. Families should be aware of the possible symptoms, who to call if a child develops these symptoms, and the recommended treatments. Treatments may include avoiding going a long time without eating, eating a low-fat diet, and watching carefully when a child develops another illness. To find a metabolic dietitian specializing in diets for people with SCADD, visit the GMDI Find a Metabolic Dietitian webpage.
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/
- 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
Is there a treatment for childhood onset Short chain acyl-CoA dehydrogenase deficiency (SCADD)?
Newly diagnosed babies and individuals with the more severe forms of SCADD should avoid going a long time without eating. They may need to eat more frequently when they are sick or when they are under extra stress.
In addition to eating regularly, some individuals may benefit from a diet low in fat and high in carbohydrates and proteins.
Several other treatments have been tried for children and adults experiencing symptoms from SCADD. These include treatment with carnitine (a protein that helps the body burn fat for energy) and riboflavin/Vitamin B2 (a vitamin that helps the SCAD protein break down fats). Thus far, it is not clear if these treatments are actually helpful or who might benefit from them.
People experiencing a metabolic crisis, which includes problems eating, low muscle tone, vomiting, low energy, lethargy (extreme sleepiness), and seizures, should be treated with intravenous (IV) glucose, a form of sugar that can be burned for energy.
Since many people with SCADD will never develop symptoms, there may be no treatment necessary. As children with SCADD grow older, it will become more clear whether or not they need treatment.
To find a metabolic dietitian specializing in diets for people with SCADD, visit the GMDI GMDI Find a Metabolic Dietitian webpage
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/
- Longo, N. (2011). Short-chain acyl-CoA deficiency (SCADD). https://www.medicalhomeportal.org/newborn/short-chain-acyl-coa-deficiency
- http://www.babysfirsttest.org/newborn-screening/conditions/short-chain-acyl-coa-dehydrogenase-deficiency
Is there a treatment for adult Short chain acyl-CoA dehydrogenase deficiency (SCADD)?
People with later onset SCADD should pay attention to their symptoms and avoid exercise which causes them to have symptoms. They may also benefit from eating regularly and having a diet low in fat and high in carbohydrates and proteins.
They should talk to their metabolic doctor about the risks and benefits of treatment with carnitine (a protein that helps the body burn fat for energy) and riboflavin or Vitamin B2, (a vitamin that helps the SCAD protein break down fats).
To find a metabolic dietitian specializing in diets for people with SCADD, visit the GMDI GMDI Find a Metabolic Dietitian webpage
References
- Longo, N. (2011). Short-chain acyl-CoA deficiency (SCADD) https://www.medicalhomeportal.org/newborn/short-chain-acyl-coa-deficiency
- 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/
