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(yerpen _Sfoxepe” Dis eale- > Ident Page P|Dat Mae es LD)" Che a ‘Gece inal’ ©, pity hee So a get Con fey ee Zs Dieta. fa __ Pexiphioee 0 Aue - UA VL VIDL —> Secrlee) 4, Liver andl i fart — 7s clefiver hepahe | Gs Ze periphirt bee ES nes hepatic Chalet] Po f peapreat (72 ile = Weellife_yourse Chelskel for Nemphemt Awe fp L/ver- U2 "bl = Fev Bene fi- (22 20) Lope wns oy Kelme (80ites —> Apelor F TT A 4ycbiayy phat iyi ay a Mesaulex Dyshophy— y= fakec? wecesve clisosdey clue fo , Frame sh aelehin oT Neneome Afetnne. OQ Mes! commen cause ea Dithrheed Cord brrye, (2 oe Sgn 7 thes eupper chee LG Aelp_ Stand cop £ EXDRGlycogen storage diseases DISEASE, Von Gierke disease (type!) Pompe disease (type ll) Cori disease (type lll) Andersen disease (type lv) McArdle disease (type v) Periodic acid—Schiffstain identifies glycogen and is useful in identifying these diseases. DEFICIENT ENZIOME Glucose-6-phosphatase. ~~ Lysosomal acid a-1 4- glucosidase (acid maltase) with o-1,6-glucosidase activity. Debranching enzymes (e-1,6-glucosidase and 4-a.--glucanotransferase). Branching enzyme. Neuromuscular form can present at any age. Skeletal muscle glycogen phosphorylaseEssential Histidine Isoleucine Leucine Lysine Methionine Phenylalanine Threonine Tryptophan Valine Ca ninoraci Non-Essential Alanine Arginine Asparagine Aspartic acid Cysteine Glutamic acid Glutamine Glycine Proline SelenocysteineRate-determining enzymes of metabolic processes PROCESS ENZYME Glycolysis Phosphofructokinase-1 (PFK-1) 7 Gluconeogenesis : ” Fructose-I,6-bisphosphatase 1 TCAcycle Isocitrate dehydrogenase ‘Glycogenesis Glycogen synthase Glycogenolysis - Glycogen phosphorylase HMP shunt ~ Glucose-6-phosphate dehydrogenase (COPD) De novo pyrimidine “Carbamoyl phosphate synthetase i synthesis Denovo purine _—_Glutamine-phosphoribosylpyrophosphate synthesis (PRPP) amidotransferase Urea cycle Carbamoyl phosphate synthetase | Fatty acid synt hasts Acetyl- -CoA carboxylase (ACC) Ketogenesis HMG-~ “CoA synthase ee Cholesterol synthesis “HMG.-Coa reductasee, Collagen =m Type | Type ll Type lll ‘Type lv : Most com mon (90%)—Bone (made by osteoblasts), Skin, Tendon, dentin, fascia, cornea, late wound repair. Cartilage (including hyaline), vitreous body, nucleus pulposus. Retienlin—ekin, blood vessels, ier, ial tissue, early wound repair. Basement membrane (basal lamina), lens.Cancerepidemiology — Skin cancer (basal > squamous >> melanoma) is the most common cancer (1 MALES FUMALES ‘CHILOREN (AGE O-14) Cancer incidence 1. Prostate 1. Breast 1, Leukemia 2. Lung 2. Lung 2. CNS 3. Colon/rectumn 3. Colon/rectum 3, Neuroblastoma Cancer mortality 1. Lung 1. Lung 1. Leukemia 2. Prostate 2. Breast 2. CNS 3. Colon/rectum 3. Colon/rectum: 3. 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