Carnitine-acylcarnitine translocase deficiency: a case report with autopsy

• Hauptverfasser: Chennakeshava Thunga (Verfasst von), Suvradeep Mitra (Verfasst von), Devi Dayal (Verfasst von), Sadhna Lal (Verfasst von)
• Format: Buch
• Veröffentlicht: University of São Paulo, 2024-04-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

Fatty acid oxidation defects are a heterogeneous group of disorders related to the mitochondrial fatty acid oxidation pathway. Carnitine acylcarnitine translocase (CACT) is an enzyme responsible for the unidirectional transport of acylcarnitine across the inner mitochondrial membrane. This enzyme pl...