Tag: Genetic disorders

Affecting roughly 1 in 15,000 newborns in the United States, Phenylketonuria (PKU) is a rare inherited disorder that demonstrates why phenylalanine can be poisonous under specific circumstances. For the majority of healthy individuals, however, this essential amino acid is safe and vital for bodily functions.

Mitochondrial disease can lead to profound energy deficits, making diet a critical component of management. The specific diet for mitochondrial complex 1 deficiency focuses on providing alternative fuel sources, optimizing nutrient cofactors, and avoiding metabolic stress.

Although true biotin deficiency is uncommon in healthy individuals, it can occur due to various factors that impact the body's ability to absorb, recycle, or utilize this essential B-vitamin. Understanding what causes loss of biotin is crucial for identifying risk factors and managing potential symptoms such as hair thinning, skin issues, and neurological problems.

According to the National Institutes of Health, a vitamin E deficiency is extremely rare in healthy individuals and is almost always linked to an underlying condition. This makes it crucial to understand who needs vitamin E the most and why certain populations are at a much higher risk of deficiency.

According to a 2025 study in *Nature Aging*, the protein FTL1, also known as ferritin light chain 1, was found to be a key driver of brain aging in mice. The protein FTL1 is a subunit of the larger ferritin complex, an intracellular protein responsible for storing and releasing iron. This makes FTL1 found in nearly all cells, with its specific concentration and function varying significantly depending on the tissue and physiological conditions.

Approximately 50% of the copper absorbed from the diet is transported to the liver, establishing it as the central organ for copper regulation. Copper in the liver serves as both a necessary nutrient for essential functions and a potentially toxic substance that must be carefully managed to prevent disease.

Marginal biotin deficiency affects a significant proportion of pregnant and lactating women, indicating that optimal absorption is not always guaranteed. Understanding what hinders biotin absorption is crucial for anyone looking to maintain sufficient levels of this vital nutrient.

According to the National Institutes of Health, overt vitamin E deficiency is extremely rare in healthy individuals but is almost always linked to diseases that impair fat digestion or absorption. This highlights that a person's vitamin E status is influenced by far more than just dietary intake. A complex interplay of dietary, health, genetic, and lifestyle factors all play a critical role in regulating your body's vitamin E levels.

Over 400,000 prescriptions for riboflavin were dispensed in the US in 2023 for various medical conditions, highlighting its medical importance. A doctor may prescribe this B vitamin to address an underlying deficiency, manage migraines, treat certain genetic metabolic disorders, or for other specific therapeutic uses.

The field of nutrigenetics confirms that our genes and our diet are intricately linked, and this interplay can sometimes lead to disease. Over two billion people worldwide suffer from nutrient deficiencies, with genetic variations playing a significant but often overlooked role.