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December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
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May 2025 in “Journal of the Indian Chemical Society” August 2024 in “Latin American Journal of Development” 5α-reductase enzymes are crucial in certain disorders, and while treatment advances exist, more research on SRD5A3 is needed.
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March 2020 in “Frontiers in Neuroendocrinology” The enzymes 5α-reductase and 3α/β-hydroxysteroid oxidoreductase help create brain-active substances from progesterone and testosterone, which could be used for treatment, but more research is needed to ensure their safety and effectiveness.
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.