1/14/2024 0 Comments Maple syrup urine disease medicine![]() ![]() ![]() Incidence as high as 1 in 380 live births in certain populations - eg, Mennonite settlements in the USA.Worldwide, MSUD occurs in about 1 case per 185,000 live births.Molecular genetic testing of all three genes is available. The three genes associated with MSUD are BCKDHA (E1a subunit gene, MSUD type 1A), BCKDHB (E1b subunit gene, MSUD type 1B) and DBT (E2 subunit gene, MSUD type 2). BCKAD has four subunit components (E1a, E1b, E2 and E3). Īccumulation of these three amino acids and their corresponding ketoacids leads to encephalopathy and progressive neurodegeneration in an affected patient. These genes encode the components of the branched-chain alpha-keto acid dehydrogenase (BCKAD) complex, which catalyses the catabolism of the branched-chain amino acids (BCAAs), leucine, isoleucine and valine. The SIMD Annual Meeting is being held at Paradise Point Resort & Spa in San Diego, CA from March 11-14.įor more from the rare disease community, follow Rare Disease Report on Facebook and Twitter.Maple syrup urine disease (MSUD) is an autosomal recessive disorder which can be caused by mutation in at least three genes. Some symptoms can be controlled by strict dietary restrictions, however, there are currently no effective approved treatments for MSUD. The condition is associated with a maple syrup odor in urine, sweat and earwax. This devastating disease causes lethargy, irritability and poor feeding, and results in developmental delays and brain damage. Per the National Institute of Health (NIH), MSUD affects approximately 1 in 185,000 infants worldwide. “We believe insights generated through our platform will help lead to new therapies that will transform the lives of these children." "Our innovative REVEAL-Tx platform combines the power of dynamic human biology and computational science to generate deep understanding of complex diseases,” Wamhoff said. In order to address the unmet needs, and develop successful treatments for rare pediatric diseases like MSUD, Brian Wamhoff, PhD, Head of Innovation at HemoShear knows that studies need to be done in humans, and be advanced beyond “animal models and static cells in a petri dish.” HemoShear is in the preclinical stages of developing therapies for propionic academia and methylmalonic academia using the REVEAL-Tx platform. If HemoShear can uncover the fundamental functioning of metabolism, not only will we be revising medical textbooks, but we will be far down the path toward developing targeted treatments." "These diseases strike right at basic human metabolic function, leading to a cascade of complications from birth through the entire lifespan. Marshall Summar, director of the CN-RDI in a press release. "HemoShear has significantly advanced our understanding and treatment of certain rare inborn errors of metabolism," said Dr. The technology has been used to recreate almost 20 human disease states pertaining to liver, vascular and tumor biology. The MSUD model was made using HemoShear’s REVEAL-Tx platform, which employs principles of physiological blood flow to tissue from the livers of patients who received a transplant to replace the diseased organ. ![]() The CN-RDI was opened in January 2017, and focuses on advancing the care and treatment of children with rare genetic diseases. Alongside the Children’s National Rare Disease Institute (CN-RDI), the company will present 4 research programs featuring its work in these diseases, including computational rare disease modeling. HemoShear’s transformative disease models are expediting the unearthing of novel treatments for 3 rare inborn errors of metabolism, including propionic academia, methylmalonic academia and MSUD. To permit scientists to comprehend the complex disease process, classify and confirm encouraging treatment approaches, and study the effects of drug candidates, the company has recreated the human pathophysiology of the disease. MSUD is a rare genetic disorder caused by the deficiency of specific enzymes essential to metabolize proteins, leading to the speedy accumulation of life-threatening toxins in the body. At the Society for Inherited Metabolic Disorders (SIMD) Annual Meeting in San Diego next month, HemoShear Therapeutics will unveil the first human tissue-based model of Maple Syrup Urine Disease (MSUD). ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |