LIFESCI 2G03 Lecture 1: L1 MSUD
23 Mar 2018
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Document Summary
May have not noticed the urine with the first child. Second kid had trouble nursing by 5th day, 7th day stopped. Second child is also getting worse towards the 9th day. Not growing, not gaining weight in the first months of life. The failure to show weight gain and growth. In this case the child is not consuming nutrients, therefore not getting nutrients. In third world countries, appears like the child is eating, but not getting nutrients. Matthew"s urine has maple syrup smell + elevated levels of bcaa - valine, isoleucine and leucine. Matthew"s enzyme activity levels were less than 2% of normal. Msud - maple syrup urine disease, cannot drink breastmilk or regular formula. A metabolic disorder caused by a deficiency of branched-chain alpha-keto acid dehydrogenase complex (many proteins means complex) - bckdc. Build up of leucine, isoleucine and valine & their toxic by-products (keto-acids) in blood and urine. The bcaas are not used by the body.
