The Turkish Journal of Pediatrics 2021 , Vol 63 , Num 4
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant
Berrak Bilginer Gürbüz 1 ,Didem Yücel Yılmaz 2 ,Rıza Köksal Özgül 2 ,Can Koşukcu 3 ,Ali Dursun 1 ,Hatice Serap Sivri 1 ,Turgay Coşkun 1 ,Ayşegül Tokatlı 1
1 Department of Pediatric Metabolism, Hacettepe University Faculty of Medicine, Ankara
2 Department of Pediatric Metabolism, Hacettepe University Institute of Child Health, Ankara
3 Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Turkey
DOI : 10.24953/turkjped.2021.04.017 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 described the clinical features, biochemical, and molecular findings of three patients with CACTD, presented with poor feeding, hypoglycemia, liver dysfunctions, and hyperammonemia, but died despite intensive treatment.

Cases. All cases had similar signs and symptoms like poor feeding and respiratory failure associated with liver dysfunction. Urinary organic acid profiles in the presence of hypoglycemia and hyperammonemia led us to the possible diagnosis of one of fatty acid β-oxidation defects. Results of the molecular analyses were compatible with CACTD. In addition to known mutation (c.270delC;p.Phe91Leufs*38) we detected a novel one (c.408C>A;p.Cys136*).

Conclusions. All three cases died despite a very intensive therapy. Based on our experience with these three cases, it can be said that CACTD has a relatively poor prognosis, molecular studies are of most importance in suspected cases for the final diagnosis and such studies might be of help while giving genetic counselling and guidance to parents for future pregnancies. Keywords : fatty acid oxidation defects, carnitine, aclycarnitines, carnitine acyltransferases, carnitine acylcarnitine translocase

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