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2a,b) and an upwards movement of the side chain of phenylalanine F112 (Fig

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5.1.3 Carnitine-acylcarnitine translocase (CACT) deficiency Clinical presentation Patients with CACT deficiency (OMIM 212138) usually present in the neonatal period with severe hyperammonemia, liver failure, cardiomyopathy and respiratory distress, often with fatal outcome [23, 24, 102, 103]