The basic genetic theory assumes that genes are inherited either dominant or recessive, or more rarely additive such as when you cross a red flower with a white, and the offspring will be pink. The molecular basis of this color in a flower is that two genes that gives the red color gives a red flower, no functional gene for red color gives white flower and an edition of the gene gives some color pigments but not so much so that the flower turns pink. If the gene that causes the disease is located on one of the inherited sex chromosomes the sex is linked. If the gene is located on the normal chromosomes, autosomerna, the disease is autosomal.
Rare genetic metabolic diseases are a broad group of more than 600 diseases caused by mutations/defects of single metabolic genes. In these disorders, the defect of a single metabolic enzyme disrupts the normal functioning of a metabolic pathway, and leads to either an accumulation of metabolites that may be toxic or interferes with normal function, or reduces the ability to synthesize essential cellular components. Most rare genetic diseases are likely to be under diagnosed given the lack of awareness, available therapies or diagnostics and/or the rarity of the condition. The vast majority of rare genetic disorders have few therapeutic options available. The standard of care is often supportive, meaning treatment of symptoms with no effect on underlying disease mechanisms.
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