TY  - JOUR
TI  - Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a
novel c.408C>A variant
AB  - 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.
AU  - KOŞUKCU, Can
AU  - YILMAZ, Didem Yücel
AU  - DURSUN, Ali
AU  - TOKATLI, Ayşegül
AU  - GÜRBÜZ, Berrak Bilginer
AU  - Sivri, H. Serap
AU  - coskun, turgay
AU  - ÖZGÜL, Rıza Köksal
DO  - 10.24953/turkjped.2021.04.017
PY  - 2021
JO  - Turkish Journal of Pediatrics
VL  - 63
IS  - 4
SN  - 0041-4301
SP  - 691
EP  - 696
DB  - TRDizin
UR  - http://search/yayin/detay/509973
ER  -