Category: Genetics

According to one recent study, excess synthetic folic acid intake in people with the MTHFR C677T variant can lead to the accumulation of unmetabolized folic acid (UMFA), which is associated with cognitive and psychiatric issues. This critical genetic variation highlights the fundamental difference between the body's processing of synthetic folic acid and natural folate, and why avoiding folic acid with MTHFR is a key consideration for many people.

Approximately 40% of the U.S. population carries a genetic variation that affects the $MTHFR$ gene, impacting their ability to process nutrients like folate. For these individuals, the critical question is: **Should I take folate or folic acid with MTHFR?**

Biotinidase deficiency, a rare inherited metabolic disorder, is detected in approximately 1 in 61,067 newborns worldwide through mandatory screening programs. This condition, if left untreated, can cause severe neurological and dermatological issues, making it critical to understand **what medication is used for biotinidase** to prevent serious complications.

Over 400 different genetic mutations have been identified that can lead to a deficiency of glucocerebrosidase, causing the lysosomal storage disorder known as Gaucher disease. This inherited condition prevents the body from properly breaking down a fatty substance called glucocerebroside, leading to its accumulation in cells and causing a wide range of health problems.

Inherited deficiency of the enzyme **Glucocerebrosidase** is the cause of Gaucher disease, a devastating lysosomal storage disorder that affects approximately 1 in 50,000 to 1 in 100,000 people worldwide. This crucial enzyme is known by several other names in the scientific and medical communities, reflecting its function and its genetic basis.

Up to 50% of undesirable drug reactions can be attributed to differences in how individuals metabolize medications. This variability is especially critical for antidepressants, where the cytochrome P450 (CYP) 2C19 enzyme plays a significant role in breaking down several commonly prescribed drugs. Understanding which antidepressants are metabolized by CYP2C19 is key to predicting efficacy, side effects, and optimizing treatment outcomes based on a person's unique genetic profile.

According to the FDA, about 10% of Asian people carry the HLA-B*15:02 allele, a genetic marker associated with an increased risk for severe skin reactions. This genetic factor is a critical consideration for those asking, “Can Asians take lamotrigine?” and underscores the importance of informed medical guidance.

The cytochrome P450 2C19 (CYP2C19) enzyme, found primarily in the liver, is responsible for processing at least 10% of drugs currently in clinical use [1.2.1, 1.6.2]. Understanding **what drugs does CYP2C19 metabolize** is crucial for personalizing medicine and avoiding adverse reactions.

The U.S. Food and Drug Administration (FDA) approved Kebilidi in November 2024, approximately two years after the same gene therapy was approved in the European Union (EU) as Upstaza. This means that when asking, 'Is kebilidi the same as upstaza?', the answer is yes: they are different brand names for the exact same medical product, `eladocagene exuparvovec`.

Idiosyncratic drug reactions occur in a tiny fraction of the population, with incidence rates sometimes as low as 1 in 100,000 people. A classic example of an idiosyncratic effect is prolonged apnea following the administration of the muscle relaxant succinylcholine during anesthesia.