Carnitine-acylcarnitine translocase deficiency: a case report with autopsy

• Main Authors: Chennakeshava Thunga (Author), Suvradeep Mitra (Author), Devi Dayal (Author), Sadhna Lal (Author)
• Format: Book
• Published: University of São Paulo, 2024-04-01T00:00:00Z.
• Subjects: article
• Online Access: 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...