We need the government to pass the Medical Nutrition Equity Act to ensure insurance coverage of medically necessary food, vitamins, and amino acids for metabolic disorders. There's been more media coverage of the baby-formula shortages than the metabolic shortages, and we've been yelling and screaming for months, trying to get someone to listen to us. I wish people were talking about the metabolic-formula shortage as much as they're talking about the baby-formula shortage, because we need help too. We are being treated as an afterthought in the formula shortage. And Abbott was one of the only companies in the United States making our source of nutrition. There are thousands of people who need this formula to live. I don't want my friends with MSUD to die, and I am so worried about them. Within 24 to 48 hours without my formula, my brain will start swelling and deteriorating. For that, I would need my formula - but the hospitals, too, are running out of it. In the hospital, I'll be given an IV of D10 dextrose to keep my calorie intake up, but that won't give me any protein. I want the country to know that when I run out of Ketonex-2, hospitalization will be the only way to keep me alive, but it's a short-term solution that probably won't save my life. But what I don't understand is why the FDA did not give people like me more information about what was going on with our sole source of nutrition. ![]() ![]() I understand why the FDA needed to shut down Abbott's formula production to make sure it was safe. The FDA has not been transparent with us through this process. I know too many families right now who have completely run out of formula. What happened at Abbott and how it is being handled could end my life. The formula shortage may kill me, and I want everyone in this country to understand that. It was named maple syrup urine disease since the urine that contain these metabolites smell like. Maple syrup urine disease (MSUD) is a rare but treatable inherited disorder that prevents the normal breakdown of protein. My supply is dwindling every day, and I am scared. Maple syrup urine disease is a rare genetic metabolic disorder where the body cannot break down branched chain amino acids like valine, leucine, and isoleucine completely, causing buildup of these amino acids and their toxic metabolic byproducts. I have not received a case in three months. I need to consume more than half a can a day. We review this disorder including its presentation, screening and clinical diagnosis, treatment, and other relevant aspects pertaining to the care of patients.īCKDHA BCKDHB DBT alloisoleucine branched-chain amino acids maple syrup urine disease newborn screening.I need three cases of Ketonex-2 formula per month, which costs about $1,200 a month if you're paying out of pocket - and trust me, the insurance companies often find ways to make sure it's not covered. as a progressive neurologic degenerative disorder. Newborn screening for MSUD is now commonplace in the United States and is included on the Recommended Uniform Screening Panel (RUSP). Maple syrup urine disease (MSUD) was first described in 1954 by Menkes et al. Clinical outcomes are generally good in patients where treatment is initiated early. Treatment consists of dietary restriction of BCAAs and close metabolic monitoring. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. ![]() The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine.
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