CPT II Deficiency

Symptoms – Myopathic: Exercise intolerance, fasting intolerance, muscle pain, muscle stiffness, and myoglobin in the urine

Symptoms – Infantile: Reye-like syndrome, enlarged liver, hypoglycemia, enlarged heart, and cardiac arrhythmia

Cause: Autosomal recessive

Treatment – Non-Infantile: High carbohydrate, low-fat diet

Links: https://rarediseases.info.nih.gov/diseases/1121/carnitine-palmitoyltransferase-2-deficiency