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]
Qin Zhang, [email protected] These authors have contributed equally to the work This article was submitted to Ethnopharmacology, a section of the journal Frontiers in Pharmacology Disclaimer All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers
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