What is it about?
Harel-Yoon syndrome is a rare autosomal recessive genetic disease. We describe a new biallelic mutation in the ATAD3A gene (c.251T>C, p.Thr84Met). The mutation led to ataxia (cerebellar atrophy), congenital cataract and sever osteoporosis. The ATAD3A gene is a nuclear gene but its protein is involved in mitochondrial stability. The mutation causes mitochondrial DNA fragmentation and mitochondrial structural abnormalities.
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Why is it important?
We describe a new missense mutation inflicting the ATAD3A gene that presented with signs and symptoms of Harel-Yoon syndrome. Our dietary modification appeared to improve the stability of mitochondria and temporarily slowed the progression of the disease.
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This page is a summary of: Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus, The Application of Clinical Genetics, June 2019, Dove Medical Press, DOI: 10.2147/tacg.s194204.
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