Succinyl-CoA:3-oxoacid CoA transferase deficiency

Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency, also known as succinyl-CoA:3-ketoacid CoA transferase deficiency or 3-oxoacid CoA transferase deficiency, is a rare inherited disorder of ketone body utilization. It is caused by mutations in the OXCT1 gene, which encodes the mitochondrial enzyme responsible for activating acetoacetate so it can be used as an energy source in extrahepatic tissues. When this enzyme is deficient, the body cannot properly utilize ketone bodies, leading to their accumulation in the blood. The hallmark of SCOT deficiency is recurrent episodes of severe ketoacidosis, which typically present in infancy or early childhood. These episodes are often triggered by fasting, illness, or physiological stress and are characterized by vomiting, rapid breathing (tachypnea), lethargy, and potentially life-threatening metabolic acidosis with markedly elevated blood ketone levels. Some patients may exhibit a state of permanent or semi-permanent ketosis even between acute episodes. Neurological complications can occur if episodes are severe or prolonged, and in rare cases, cardiomyopathy has been reported. Treatment is primarily supportive and preventive. Management focuses on avoiding prolonged fasting, ensuring adequate caloric intake (particularly during illness), and prompt intravenous glucose administration during acute ketoacidotic episodes to suppress ketone body production. A diet with frequent meals and avoidance of high-fat, ketogenic diets is recommended. With early diagnosis and appropriate management to prevent severe metabolic crises, the long-term prognosis can be favorable, though lifelong vigilance is required.

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