Mastering Nutrition cover image

When to Consider Inborn Errors of Metabolism

Mastering Nutrition

CHAPTER

The Importance of Genetic Disorders

Almost every genetic disorder has less than 100% penetrance, which means essentially that there's no such thing as a monogenetic disorder. Most cystic fibrosis genes have something on the order of 70%. It is highly likely that all genetic disorders are modified by the environment and distresses on the body.

00:00
Speaker 1
The anesthetic propofol reverse transcriptase inhibitors, cyanide, salicylic, metformin, ferberin, siprofloxacin, a lot of people are taking a lot of things and eating a lot of things that are respiratory chain poisons. Now, since it's extremely rare to have a genetic disorder with 100, 100% penetrance, which means that everyone with the gene gets the clinical presentation of the disease. Almost every genetic disorder has less than 100% penetrance, which means essentially that there's no such thing as a monogenetic disorder. And I've used this example before. If you go to something like cystic fibrosis, most cystic fibrosis genes have something on the order of 70% penetrance, which means 30% of the people that have the genes don't get the disease. And that's obviously, because there's modifying factors and those can be both the other genes and they can also be the environment. And when you have a genetic disorder that is 100% penetrance, that's probably a sampling error. And even so, there's nothing to say that the 100% penetrance in the current environment would be 100% penetrance in a different environment. So it's highly unlikely there's any such thing as a monogenetic disorder that has 100% penetrance. And if it doesn't have 100% penetrance, it's not a monogenetic disorder. So arguably, there's no such thing as a monogenetic disorder, even though there are disorders that are by and large, best construed as monogenetic disorder for all practical intents and purposes. But the reason that I bring this up is that it's a complete fallacy to create a dichotomy between a genetic disorder and its environmental triggers when in fact, it is highly likely that all genetic disorders are modified by the environment and distresses on the

Get the Snipd
podcast app

Unlock the knowledge in podcasts with the podcast player of the future.
App store bannerPlay store banner

AI-powered
podcast player

Listen to all your favourite podcasts with AI-powered features

AI-powered
podcast player

Listen to all your favourite podcasts with AI-powered features

Discover
highlights

Listen to the best highlights from the podcasts you love and dive into the full episode

Discover
highlights

Listen to the best highlights from the podcasts you love and dive into the full episode

Save any
moment

Hear something you like? Tap your headphones to save it with AI-generated key takeaways

Save any
moment

Hear something you like? Tap your headphones to save it with AI-generated key takeaways

Share
& Export

Send highlights to Twitter, WhatsApp or export them to Notion, Readwise & more

Share
& Export

Send highlights to Twitter, WhatsApp or export them to Notion, Readwise & more

AI-powered
podcast player

Listen to all your favourite podcasts with AI-powered features

AI-powered
podcast player

Listen to all your favourite podcasts with AI-powered features

Discover
highlights

Listen to the best highlights from the podcasts you love and dive into the full episode

Discover
highlights

Listen to the best highlights from the podcasts you love and dive into the full episode