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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]
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Contact PlexusDx support if symptoms become severeyour provider may adjust timing or dosing temporarily based on your individual response pattern
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