Carnitine Palmitoyltransferase II deficiency (CPT II)



Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting).


Signs and Symptoms
Type I (Lethal Neonatal): Appears soon after birth with symptoms including respiratory failure, seizures, liver failure, various bnormal heart conditions, and hypoketotic hypoglycemia. Type II (Severe Infantile Hepatocardiomuscular): Appears within the first year of life with symptoms including hypoketotic hypoglycemia, seizures, enlarged liver, and various abnormal heart conditions. Type II (Myopathic): Characterized by reoccurring muscle pain and weakness and discolored urine.

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