Acyl-coa dehydrogenase, short-chain, deficiency of
Symptoms
What are the symptoms of childhood onset Short chain acyl-CoA dehydrogenase deficiency (SCADD)?
Most children who are diagnosed with SCADD based on newborn screening tests (and confirmed by follow-up testing) never develop any symptoms.
For those that have problems, the symptoms can range from mild to severe. If symptoms occur, they often start when the child is between one week and 3 months of age.
Infants with SCADD who go a long time without eating well may have their blood sugar drop too low (hypoglycemia) and/or have toxins from partially burned fats build up in their bodies. When this happens they become unusually sleepy (lethargic), irritable, and have trouble eating. This is called a metabolic crisis. If a child who gets these symptoms is not treated, he/she may go on to develop seizures and coma.
Some children with SCADD may also experience trouble gaining weight, delays in learning, hyperactivity, muscle weakness, low tone (floppiness), and an enlarged liver (hepatomegaly).
References
- STAR-G. (2016). Genetic Fact Sheet for Parents: Fatty Acid Oxidation Disorders: Short Chain Acyl-CoA Dehydrogenase Deficiency. http://www.newbornscreening.info/Parents/fattyaciddisorders/SCADD.html#3
- Longo, N. (2011). Short-chain acyl-CoA deficiency (SCADD) https://www.medicalhomeportal.org/newborn/short-chain-acyl-coa-deficiency
More Symptoms Content
What are the symptoms of the Later-onset form of Short chain acyl-CoA dehydrogenase deficiencySCADD)?
The later-onset form of SCADD usually shows up in older children and adults. It causes muscle cramps and pain and difficulty with exercise. Adults with SCADD can also have episodes of nausea, vomiting, and shortness of breath.
Milder variants of this condition can be found in the general population and usually do not require treatment.
References
- STAR-G. (2016). Genetic Fact Sheet for Parents: Fatty Acid Oxidation Disorders: Short Chain Acyl-CoA Dehydrogenase Deficiency. http://www.newbornscreening.info/Parents/fattyaciddisorders/SCADD.html#3
- Longo, N. (2011). Short-chain acyl-CoA deficiency (SCADD). https://www.medicalhomeportal.org/newborn/short-chain-acyl-coa-deficiency
