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Article

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

The Turkish journal of pediatrics - 1 Jan 2021

Gürbüz Berrak Bilginer, Yılmaz Didem Yücel, Özgül Rıza Köksal, Koşukcu Can, Dursun Ali, Sivri Hatice Serap, Coşkun Turgay, Tokatlı Ayşegül

Abstract excerpt

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 hyperammonemia, seizures, cardiomyopathy, liver dysfunction, severe neurological damage, and muscle weakness. Herein, we...

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PMID: 34449152
DOI: 10.24953/turkjped.2021.04.017

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