Type Defectveensyme __Organaffected Glycogen Inthe affected organ Clinical features ‘ (Glucose @ phosphatase Liver andkidney Increased amount Massive enlargement of the lve Vonlerke _“ortransport system ‘normal structure. Fallre to thrive Severe hypostyeema, ketosis, hyperuricemia, hypetipemia, eA-Glucosidase Allorgans Massive increase in Cardirespratory failure Pompe ‘iysosoma ‘amount’ normalsiucture. causes death, usually before age 2. w Amyo-16-alucoridase Murcleandiver —_Increated amounts Like type but milder course con debranching enzyme) Short outer branches. w Branching enzyme Liverand spleen Normalamount;very long Progresive cirrhosis ofthe liver. Andersen (eles) outer branches. iver failure causes death, ‘usualy before age 2. v Phosphorylase Muscle Moderately increased mite bit to perform strenuous Mears rount;normal structure. erercise because of pant muscle cramps. Otherwise patent iCnormal and well developed. w Liver Increased amount. Like type but milder Hers ‘cure, vu Muscle lncreased aounts Like type ‘normal serve. va Liver Increased amount? Mid tver enlargement. normal serveture. ‘Mila hypoglycemia. ‘te ype hough Vie inharted a autosomal receives Type Vier inked Table21.1 hemi Smt ion Tumut 21.1 Glycogen-storage diseases Glycogen Tre Defective enzyme Organaffected __intheafected organ ___ Clinical features 1 ‘Glucose phosphatase Uver and Kidney Increased amount assve elorgement of he Her Von Gerke ‘erttansport system ‘normal structure. Fale to tne Severe ‘dieses Inypostycemia ketosis, Inyeruricerlhypertiperia 1 4slucokdase Allrgens Massive locesea ia Cardorepiratony allure Uysosomal ‘rount normal structure. causes death, vsaly before ager. ‘Amlo-1S-lucasdase —Musceandlivr—_ tncensed amount {te type bat miter (branching enzyme) short outer bre cewte Branching espe LUverand spiaen ermal amount verylong Progressive cinhosis ofthe es (nt atal cuter beanches LUverfalure causes death asta before age? Phosphoryse Muscle Moderately icroned Limited byt perform strenuous ‘trout normal stectire, gure boca f pal muscle comps Otheruse patient {Erormal and well developed Phosphorytse Liver Aecrensed smut. {ike type Lat iter Phosphotractokinase Mule crease amount use tye, vw Phosphoryse kinase Ler Increased omeunt normal Mid ver enlargement. via, ils myposicemia, ‘oresype rough War ievite ar atonomalreoes Type Vino iaeon storage drs (0) pe nae dec incl sures ‘pel iene dea) (gure chal Iyengicera, lage her andl, ecortstal synpone, sts, dt tre, gut ‘ped Forge dca) isoone cid abheaLstise ——_dnhched mace bre eats, ened one ‘ype foros dssace Cori /amlo-Lé-qUuccidese(brarcher —_(hgragyceria, large er, crtosis, nucle weakness, cardiac nuoherent Idsease) enzyme) ‘pel’ Gndereedeeas) ach ecyre lg ier ard le cross, cinch usc oe, cs ros seem ‘twaement ‘ge teria dees) (rwophogharse use wes tu, sce warps np drs dss) ln shomptanase rid yoghcena ange er, ort Sate nia {eV Taide) ruc phous ck a, weaves, dead era pet shes knee ridge ange le, ht satu nia, prsble male weanesand camps peo ine ghee tele Ineo, ese i enka er