Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

Background. Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare, autosomal recessive, and highly lethal fatty acid oxidation (FAO) disorder caused by defective acylcarnitine transport across the mitochondrial membrane. CACTD is characterized by severe episodes of hypoglycemia and...

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Main Authors: Berrak Bilginer Gürbüz, Didem Yücel Yılmaz, Rıza Köksal Özgül, Can Koşukcu, Ali Dursun, Hatice Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2021-08-01
Series:The Turkish Journal of Pediatrics
Subjects:
aclycarnitines
carnitine
carnitine acylcarnitine translocase
carnitine acyltransferases
fatty acid oxidation defects
Online Access:https://turkjpediatr.org/article/view/348
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