Short chain Acyl CoA dehydrogenase deficiency
Overview
Short Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) is a condition in which the body cannot oxidize fatty acids because an enzyme is either missing or not functioning correctly.
Symptoms
Symptoms of SCADD are failure to thrive and hypoglycemia. Over time without proper treatment, development is delayed.
Diagnosis
Some affected infants will exhibit vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive). Other features of this disorder may include poor muscle tone (hypotonia), seizures, developmental delays, and a small head size (microcephaly). The symptoms of short-chain acyl-CoA dehydrogenase deficiency may be triggered by periods of fasting or during illnesses such as viral infections. In some cases, signs and symptoms may not appear until adulthood, when some individuals may develop muscle weakness and wasting. Other people with gene mutations that can cause this disorder may have such mild symptoms that they are never diagnosed. Many biochemical geneticists consider this to be a biochemical phenotype with a very mild clinical phenotype or no clinical phenotype.
Treatment
Treatment of SCADD usually consists of avoidance of fasting (by frequent meals) and use of glucose IV required when food cannot be tolerated (such as with a virus, cold, flu, etc.). Intake of short--chain fatty acids should be avoided. Supplemental carnitine is recommended for some affected children.