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HMG-CoA Lyase Deficiency, HMG-Coa Lyase Deficiency HMG-CoA 2 Pools: 1. Mito HMG-CoA - for ketogenesis -needs HMG-CoA lyase -used for catabolism of Leucine 2. Cytosolic HMG-CoA-for cholesterol synth -needs HMG-CoA reductase, HMG-Coa Lyase Deficiency Clinical Sx Metabolic Acidosis, Organic Aciduria (HMG) -accum. HMG, metabolites Fasting Hypoglycemia w/out ketosis -impaired energy generation in liver->lack of GNG Hepatomegaly, diffuse accum of lipid droplets -accum Acetyl CoA in liver->inc. FA synth, TAG accum. Lethargy, coma, apnea - metabolic decompensation (presents like Reye Syndrome), HMG-Coa Lyase Deficiency NL Fasting State Fasting: Low energy LIVER-beta-oxidizes FAs for energy GNG depletes OAA pool ->Acetyl Coa made from b-oxidation -can't enter TCA cycle ketone bodies->continued b-oxidation, HMG-Coa Lyase Deficiency Maple Syrup Urine Dz Differs b/c problem downstream of a-ketos HMG-CoA only used in Leu breakdown, not other 2, HMG-Coa Lyase Deficiency HMG-Coa Lyase Homodimeric Enz in Mito Matrix HMG-CoA->acetoacetic acid+acetyl CoA -last step of ketogenesis & Leu catabolism, HMG-Coa Lyase Deficiency Tx Avoid Hypoglycemia -frequent small meals, enough carb. intake Avoid excess Leucine intake -but have enough of everything else Avoid infections, other catabolic states -mm. high in Leu, other BCAAs -catabolism->mobilize Lys -fever, infection increase Glucose req., HMG-Coa Lyase Deficiency Dz State No HMG-CoA Lyase ->can't synth ketone bodies from AAs acetoacetate, b-hydroxybutyrate ->"no ketosis"->less energy, no GNG -must use all glucose->hypoglycemia