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2 results on '"Fatih S, Ezgu"'

1. New therapeutic modalities for rare diseases

Author

Fatih S. Ezgu

Subjects
Genetics, Treatment, Rare disease, Pediatrics, RJ1-570
Abstract

Genetic Diseases affect about 2 % to 3 % of all live births. It has been reported that genetic disorders can account for up to 22 % of infant deaths. Despite this significant effort to create new therapies, treatment is available only for about 5 % of these diseases due to undiscovered etiology or rapid progression to the point of no return. Efforts for new and effective etiology-targeted treatment methods for rare genetic disorders have significantly increased in recent years. Gene-targeted novel treatments such as gene replacement therapy and gene editing, mainly gene-targeted, have significant potential to be the primary treatment modalities in the future.

Published
2024
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2. Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review

Author

Mustafa, Kılıç, Sevil, Dorum, Ali, Topak, Mutlu U, Yazıcı, Fatih S, Ezgu, and Turgay, Coskun

Subjects
Hydroxymethylglutaryl-CoA Synthase, Lethargy, Male, Mitochondrial Diseases, Adolescent, Turkey, Infant, Hypoglycemia, Child, Preschool, Mutation, Humans, Female, Acidosis, Metabolism, Inborn Errors, Hepatomegaly
Abstract

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is a very rare autosomal recessive inborn error of ketone body synthesis and presents with hypoketotic hypoglycemia, metabolic acidosis, lethargy, encephalopathy, and hepatomegaly with fatty liver precipitated by catabolic stress. We report acute presentation of two patients from unrelated two families with novel homozygous c.862CT and c.725-2AC mutations, respectively, in HMGCS2 gene. Affected patients had severe hypoketotic hypoglycemia, lethargy, encephalopathy, severe metabolic and lactic acidosis and hepatomegaly after infections. Surprisingly, molecular screening of the second family showed more affected patients without clinical findings. These cases expand the clinic spectrum of this extremely rare disease.

Published
2020

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