Maple Syrup Urine Disease (MSUD) | USMLE Step 1 Biochemistry Mnemonic

Pixorize
Pixorize
47.2 هزار بار بازدید - 6 سال پیش - Maple syrupe urine disease (MSUD)
Maple syrupe urine disease (MSUD) is an autosomal recessive metabolic disorder that leads to the accumulation of branched-chain amino acids. Infants with maple syrup urine disease have urine with a distinctive sweet odor that is reminiscent of maple syrup. This sweet-smelling urine is usually noticed prior to diagnosis and during acute disease. MSUD is caused by a defect in branched-chain ketoacid dehydrogenase, which leads to the accumulation of isoleucine, leucine, and valine. This accumulation of branched-chain amino acids leads to a number of CNS problems: developmental delay, lethargy, and posturing (decorticate or decerebrate). If left untreated, patients usually die in infancy. Since thiamine pyrophosphate (TPP) is a cofactor for branched-chain ketoacid dehydrogenase, some forms of maple syrup urine disease may improve and be treated with thiamine (vitamin B1).

Learn about maple syrup urine disease and other medical school topics with Pixorize's USMLE Step 1 mnemonics. Part of our Metabolic Disorders playlist for the USMLE Step 1 exam.

Subscribe for More: https://bit.ly/2yybxhm
Study Interactive Image: https://pixorize.com/view/4215
6 سال پیش در تاریخ 1397/09/16 منتشر شده است.
47,298 بـار بازدید شده
... بیشتر