Successful treatment of severe MSUD in Bckdhb-/- mice with neonatal AAV gene therapy.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12604
Abstract: Maple syrup urine disease (MSUD) is rare autosomal recessive metabolic disorder caused by the dysfunction of the mitochondrial branched-chain 2-ketoacid dehydrogenase (BCKD) enzyme complex leading to massive accumulation of branched-chain amino and 2-keto acids. MSUD… read more here.
Keywords: msud; gene therapy; mice; gene ... See more keywords
Knowledge-Based Dietary Intake Recommendations of Nutrients for Pediatric Patients with Maple Syrup Urine Disease
Sign Up to like & getrecommendations! Published in 2023 at "Healthcare"
DOI: 10.3390/healthcare11030301
Abstract: Maple syrup urine disease (MSUD) is a metabolic disorder characterized by a difficulty to digest and process proteins necessary for growth. To monitor and maintain the ideal growth of children with MSUD, caregivers need to… read more here.
Keywords: maple syrup; tool; msud; syrup urine ... See more keywords