Glycogen storage DisordersOMe uO a Re eens *The metabolic defect associated with glycogen synthesis and degradation are collectively referred to as glycogen storage disorders. *These disorders are due to defects in enzymes which may be either generalized ( affecting all = tissues ) or tissue specific + The inherited disorders are characterized by deposition of normal or abnormal type of glycogen in one or more tissues.Glycogenstorage disorders.mp4 ‘Type 0- Defect in Glycogen Synthase Clinical features Hypoglycemia, hyperketonemia, early death Type-1 = Von gierke's disease + Inheritance : Autosomal recessive + Enzyme defect : Glucose 6. phosphatase, + Clinical features. + Fasting hypoglycemia — due to defect in enzyme glucose 6 phosphatase 7 Due to enzyme defect, enough free glucose is not released into the blood. + Lactic acidemia :Glucose is not synthesized from lactate produced in liver and ‘muscle. Lactate level in blood increases and so pl is lowered . + Hyperlipidemia. There is blockade in gluconeogenesis. Hence fat is mobilized ‘to meet the energy requirement of the body, This results in increased plasma = free fatty acids and ketone bodies.Glycogen std + Hyper uricemia: Glucose .6.P that accumulates is diverted to HMP shunt pathway leading to increased synthesis of ribose phosphate pathway leading to increased synthesis of ribose phosphate which increases the cellular levels PRPP and enhances the metabolism of purine nucleotide to uric acid formation. Elevated uric levels are often associated with gouty arthritis + Glycogen get deposited in liver leading to Cirrhosis of lever + Management: Give small quantity of food at frequent intervals.Glycogen std ; Fear mz grgyeom cue ee Gorey fat cis Peetyhcot Increased —> Pyruvate — Teacycle Enzyme: Gucose 6. phosphatase Inheritance: Autosomal Recessive Ghyopen Glucose Tal cose 1 cote Gross ™ tuconddgeness lagate ——rPyovate — Ten cycle Ctnia! yponycora, ver dseate ncn adenoma, real deat, lec acidosis hyperuncemia, hyperrgheorcama Diagn: Enzyme level on lve tcpsy, DNA (na nenbern sc Treatment Low fucose and su 1780 dt, Hequent feedings incuingnoctumal, com starch,Cree nee ees Type Il, Pompe’s disease Cause: Tne dotciency ofthe lysosomsl enzyme a Gucosidace (aod malaee) leanito mo Sioogen in many tasueo. 5 ejecodce eccumlaen of anyopetn ike gyogen * Grae form: fluro tires, pet oneal propre ve eo disease ~ cirhosss, ver falure, often FD yours Mild form: Non-progressive Neuromuscular Form ~ Enayme studies: Liver, muscle, erythrocytes, fibroblasts + Therapy: Liver Treneplant ation ?Glycogen storage disorders.mp4 + Type V- Me Ardle’s disease — due defect in Muscle phosphorylase I =— ‘Type VI Hers’ disease :due defect in Liver phosphorylase “Type VII Taru’s: due defect in Muscle PFK-I ‘*TypeVill_ due defect in Liver phosphorylase kinase. “Type IX,b. ~ muscle phosphorylase kinase (Liver leucocytes, muscle }eer Defective aye [aucos phosphatase ortansportssten eA Ghose (isso Amylose (Getrag enzyme) Branching aye (ela) Phospholse w Phosphoyse Her w Posphtrcokinase vu Phosphate hnase Organ tected Uverad kidney organs ucla ver Lverand spleen mace ee Shyogen inthe atected organ Tncased amount eral strate, Masselncease in oun normal sructue, Increased amount: Shrtoutrbete Normal aout ey long terranes Nera increased sant somal srucue Incased amount Increased amowe: eral suc. Increased amount eval suc, Table211 eden See ton TA Fern op incl features ‘ase enargenestof he ve Foluet tive Severe poder katoss, Iperriems ypeipems. (ardor fare ‘ass dnt wuaybelre age, he typel bat mider couse Progressive cost thee. vera causes death sully bore ape. Utd abit pertom strenwus tree becuse pall msc camps. Otherwise patent Isreal and wel ered Uetype bt mider Uetypev id nr entargemer. id hyposhcenia.