Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus [Response to Letter]
Ashraf Al Madhoun,1,2 Fahad Alnaser,3 Motasem Melhem,1 Rasheeba Nizam,1 Tala Al-Dabbous,4 Fahd Al-Mulla1
1Genetics and Bioinformatics Department, Dasman Diabetes Institute, Dasman, 15462 Kuwait City, Kuwait; 2Animal and Imaging Core Facility Department, Dasman Diabetes Institute, Dasman, 15462 Kuwait City, Kuwait; 3Radiology Department, Ibn Sina Hospital, Ministry of Health, Kuwait City, Kuwait; 4Bayt Abdullah Children’s Hospice, NBK Children’s Cancer Hospital, Al-Adan ICU, Kuwait City, Kuwait
It is with great interest to read the comments of Dr. Josef Finsterer on our recent article, “Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus by Al Madhoun et al, 2019,” which has received a substantial article-level metrics and respond to the queries raised single nucleotide polymorphisms and deletion mutations within ATAD3 are lethal at embryonic stage or postnatally and the few survivors are living with low quality of life.1–3 Accordingly, ATAD3 genotyping enable prediction of genotype/phenotype relationship.
This is in response to the Letter to the Editor
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