Acyl-CoA dehydrogenase deficiency

Acyl-CoA dehydrogenase deficiency (also sometimes referred to by its specific subtype names, such as SCAD, MCAD, LCAD, or VLCAD deficiency, depending on which enzyme is affected) is a group of inherited metabolic disorders. These conditions affect the body's ability to break down certain fats and turn them into energy. Normally, when your body needs fuel — especially during fasting, illness, or exercise — it breaks down stored fat. In acyl-CoA dehydrogenase deficiency, a key enzyme in this process is missing or not working properly, so the body cannot complete this step. This causes a buildup of harmful fatty substances and a shortage of energy, particularly affecting the heart, muscles, liver, and brain. Symptoms can range widely depending on which specific enzyme is affected. Common problems include low blood sugar (hypoglycemia), extreme tiredness, muscle weakness, and in some cases, serious heart problems. Some people may have no symptoms until a period of stress like an illness triggers a metabolic crisis. The most common subtype, MCAD deficiency, is now detected through newborn screening in many countries, which has greatly improved outcomes. Treatment focuses on preventing metabolic crises by avoiding long periods without eating, following a carefully managed diet, and sometimes taking supplements like riboflavin (vitamin B2) or carnitine. With early diagnosis and proper management, many people with this condition live healthy, relatively normal lives. However, without treatment, severe episodes can be life-threatening.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.Which specific subtype of acyl-CoA dehydrogenase deficiency does my child have, and how does that affect their treatment plan?,What is our emergency protocol if my child becomes ill and cannot eat?,How long can my child safely go without eating at different ages?,Does my child need any dietary restrictions, and should we see a metabolic dietitian?,Should other family members, including siblings, be tested for this condition?,Are there any activities or sports my child should avoid?,What should I tell the school, emergency room, or any doctor who does not know about this condition?

Common questions about Acyl-CoA dehydrogenase deficiency