Neurocrine Biosciences’ Post

What is UCD? A urea cycle disorder is a genetic disorder caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the bloodstream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to a compound called urea in the blood. Normally, the urea is transferred into the urine and removed from the body. In urea cycle disorders, the nitrogen accumulates in the form of ammonia, a highly toxic substance, resulting in elevated blood ammonia. This is extremely dangerous and sometimes fatal. For more information on Urea Cycle Disorder, who can be affected, and signs/symptoms to look for, visit https://lnkd.in/e9DFp4t7. #ucd #ucds #ureacycledisorder #raredisease #rarediseases #rarediseasewareness #rarediseaseresearch #nucdf

October marks #HomocystinuriaAwarenessMonth. Danaé Bartke is the executive director of HCU Network America and has classical homocystinuria. She explains that while improvements in #NewbornScreening processes can potentially help more babies to receive that vital early diagnosis, progress relies on each state updating their screening protocols - something her organisation works towards. What is #Homocystinuria (HCU)? - Homocystinuria refers to a group of inherited disorders in which the body cannot process certain building blocks of proteins (amino acids) properly. - This increases homocysteine and other amino acids in the blood and urine. The most common type of genetic homocystinuria, called #CBSDeficiency, is caused by the lack of an enzyme known as #CystathionineBetaSynthase (#CBS). - Homocystinuria can affect the eyes, skeleton, central nervous system and the blood clotting system. Read Danaé's story: https://lnkd.in/gfBcmryS Read the full #NewbornScreening edition here: https://lnkd.in/e3MQyVka

Genetic lipid conditions are common, but our research shows 70% of people with FH have still not been diagnosed. Help us find these families so we can save more hearts this #HeartMonth! Learn more at FamilyHeart.org. #KnowFH #KnowLpa

Eggs are an excellent source of choline due to its high content of phosphatidylcholine. In 2023 NNR defined recommended choline intake. Choline is a semiessential compound. The endogenous formation is too low in many people because genetic variation in the liver enzyme that makes choline. Average intake is below American recommendations that have been in use for more than 20 years. Since choline deficiency causes fatty liver and defect muscle function, and the brain, the muscles and the vagal nerve use acetylcholine there are a lot of reasons to read the attached review title which summarizes the background to the NNR recommendations. It is the first Easter that we have recommendations on choline intake in Sweden and that is worth some attention! The secretion of choline in bile phospholipids is much larger than the intake of choline, so choline has to be recycled as summarized in a review from Lund: https://lnkd.in/dNsAfcDx.

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In men with a condition called non-obstructive azoospermia, where they can't make babies, their main testicle functions usually have normal levels of three hormones: FSH, LH, and Testosterone. Sometimes, FSH can be high, but it's not causing the problem. It's actually the body's way of trying to solve the issue. Also, in some cases, LH can be high, which could be a sign of a genetic problem #Prolistem #Azoospermia

Why do adolescent children also need folate Adolescence is one of the best periods in a person's life and is also a critical period for a person's development. So why do adolescent children cannot develop without folate? First of all, everyone needs folate all the time in every cell of every period, and puberty is no exception. Secondly, during puberty, the body has a relatively large demand for folate. If folate is deficient, symptoms such as anemia, fatigue, loss of appetite, etc. may occur, and even mental retardation may occur in severe cases. Folate As a water-soluble vitamin B, folate is an important nutrient required for the normal growth of cells and the synthesis and repair of DNA (DNA). Magnafolate® is a patent-protected Crystalline L-5-MTHF-Ca(Active folate), which was developed by JinKang Hexin in 2012. Magnafolate® L-5-MTHF-Ca(Active folate) is safer, purer, more stable and suitable for a wide range of people including those with MTHFR gene mutations. L-5-MTHF-Ca(Active folate) does not need to be metabolized in the body and can be absorbed directly. Email: info@magnafolate.com #Magnafolate #ActiveFolate #L5MTHF #5MTHF #L5MTHFCa #LMethylfolate #LMethylfolateCalcium #L5methyltetrahydrofolate #CalciumL5methyltetrahydrofolate #L5MethyltetrahydrofolateCalciumMTHF #ingredientofCalciumL5methyltetrahydrofolate

MTHFR stands for methylenetetrahydrofolate reductase, the infamous enzyme whose incorrect shape can predispose you to a long list of conditions. An MTHFR genetic test does not require a medical recommendation. You can download your raw DNA data and upload it to a third-party service provider to get your results. Genetic Genie and Xcode Life are third-party tools that provide a comprehensive MTHFR status report using your raw data from companies like 23andme, AncestryDNA, Family Tree DNA (FTDNA), etc. Let’s compare these two popular tools that provide you with your MTHFR status. https://qr.ae/psUVR2 OR https://lnkd.in/d5HY5dBv #methylation #MTHFRgene #MTHFRenzyme #MTHFRgenetest #MTHFR #methylenetetrahydrofolatereductase #enzyme #MTHFRgenetictest #medicalrecommendation #rawdata #serviceprovider #geneticgenie #MTHFRstatus #23andme #AncestryDNA #FamilyTreeDNA #FTDNA #xcode #xcodelife #genetics #genetest #genetictesting #genetictest #genomics #genome #geneticmakeup #geneticlink #geneticcounseling #genetictraits #genes #DNA #DNAtest #DNAtesting #research #study #findings #nutrition #health #wellness #didyouknow #wednesdaywellness #wednesdaywisdom #wednesdaythoughts #dailypost #dailytips #dailyupdates #everydaylearning

#CRISPR making it easy Doctors Can Now Edit the Genes Inside Your Body The success stories emerging from these trials are promising, indicating a future where genetic diseases could be treated more effectively and perhaps even cured https://lnkd.in/gqCTCad3

Plavix, also known as Clopidogrel, is a commonly prescribed medication that plays a crucial role in preventing heart attacks and strokes. By inhibiting blood clots, it helps safeguard against these life-threatening conditions. 💔💥 But here's the catch: an individual's genetic makeup or DNA can greatly influence Plavix's effectiveness. Certain genetic variations can make the drug less effective in preventing blood clots. 😮 Research suggests that up to 30% of the population possesses this genetic variation, highlighting how DNA can have a significant impact on the effectiveness of medications like Plavix. 🧬💊 Stay informed and take care of your health! ❤️ #MedicationAwareness #Genetics #HealthTips