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

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.PMID:34449152 | DOI:10.24953/turkjped.2021.04.017

Source: The Turkish Journal of Pediatrics - August 27, 2021 Category: Pediatrics Authors: Berrak Bilginer G ürbüz Didem Y ücel Yılmaz R ıza Köksal Özgül Can Ko şukcu Ali Dursun Hatice Serap Sivri Turgay Co şkun Ay şegül Tokatlı Source Type: research