BIOC 311 Lecture Notes - Lecture 99: Mitochondrion, Hyperammonemia, Glycogen
17 Nov 2016
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*aa = building block of proteins muscle & heart 95 % aa protein. Essential roles of aa composing proteins/energy metabolites regulation/nutrients/chemical messengers. Ex: cell signaling require kinase = amino acid activation & neurotransmitter / hormones made of aa. Amino acid metabolism=very conserved pathways in animals w/ complex regulation*interconnected. *aa metabolism can feed in other metabolism ex: cac cycle. Human disorders= genetic inherited autosomal recessive defects in aa metabolism. Either incorrect aa uptake or aa catabolism/breakdown. 1- msud = defect of side chain in aa accumulate side products & become. Very toxic to neural development = cause sweet smell of urine. 2- pku = mutated enzyme block process prevent phenylalanine to b/d into tyrosine. Tyrosine cannot further b/d for replication = problem in mental retardation/physical aspect. Solution= can diagnose potential patient by collecting sample of new-born baby. To verify mutation & can treat by: restricting diet to prevent too much phenylalanine b) pharmaceutical drug for functional enzyme.
