Article
Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.
Clinical genetics - 1 Mar 2021
Al-Thihli Khalid, Afting Cassian, Al-Hashmi Nadia, Mohammed Mohammed, Sliwinski Svenja, Al Shibli Naema, Al-Said Khoula, Al-Kasbi Ghalia, Al-Kharusi Khalsa, Merle Uta, Füllekrug Joachim, Al-Maawali Almundher
Abstract excerpt
Failure to thrive (FTT) causes significant morbidity, often without clear etiologies. Six individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Standard diagnostic work up did not ascertain an etiology. Autozygosity mapping and whole exome sequencing identified homozygosity for a novel genetic variant of the long chain fatty...
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