Download to read offline
More Related Content
Similar to GSD NEW one classification , diagnosis & manaement.pptx
GSD NEW one classification , diagnosis & manaement.pptx
- 1.
- 2. INTRODUCTION The metabolicdefects concerned with the glycogen synthesis and degradation are collectively referred to as glycogen storage diseases. These disorders are due to defects in the enzymes. The inherited disorders are characterized by deposition of normal or abnormal type of glycogen in one or more tissues.
- 3.
- 6. von Gierke's disease(Type l) It is transmitted by autosomal recessive trait. Enzyme deficiency: Glucose 6-phosphatase. The enzyme is absent in liver cells & intestinal mucosa. Liver cells, intestinal mucosa & renal tubular epithelial cells are loaded with glycogen, which is normal in structure but metabolically not available.
- 8.
- 9. Clinical & Biochemicalfeatures Fasting hypoglycemia: Hypoglycemia, decreases insulin secretion, which in turn inhibits protein synthesis causes stunted growth (dwarfism). Lactic acidemia: Glucose is not synthesized from lactate produced in muscle & liver.
- 10. Lactate levelin blood increases & the pH is lowered (acidosis). Hyperlipidemia: Fat is utilized as energy source, which leads to lipaemia, acidaemia & ketosis. Excess of acetyl CoA resulting in increased cholesterol levels, produce xanthomas. There is a blockade in gluconeogenesis.
- 11. Hyperuricemia: Glucose 6-phosphatethat accumulates is diverted to HMP Shunt, leading to increased synthesis of ribose phosphates which increase the cellular levels of phosphoribosyl pyrophosphate & enhance the metabolism of purine nucleotides to uric acid (gouty arthritis).
- 13. CLINICAL PRESENTATION(gsd) DOLLlike face with fat cheeks Short stature Protuberant abdomen due to massive hepatomegalY Enlarged kidney Easy bruises and epistaxies Delayed puberty Poly cystic ovary Pancreatitis Hepatic adenoma-2nd and 3rd decay Pulmonary hypertension Renal disorder
- 15. INVESTIGATION Blood glucose-Hypoglycemia ABG-Lactic acidosis Hyperuricemia Hyperlipidemia Neutropenia-GSD1b before 1yr age
- 16. TREATMENT IN infant-over nightNG drip Child below 2yrs –uncooked corn starch contain glucose dose of 1.6gm/kg every 4hrly Above 2 yrs-1.6 to 2.5gm/kg every 6hrly SUCROSE,FRUCTOSE,LACTOSE –Avoided or limited Hyperlipidemia-HmgcoA reductase inhibitor and Fibrate HYPERURECIMIA-Allopurinol,Xanthine oxidase inhibitor CONTD…..
- 17. TREATMENT( CONTD) GSDTYP1 MICROALBUMINURIA-ACE INHIBITORS NEPHROCALCINOSIS/HYPERCALCIURIA-CITRATE SUPLEMENTS,THIAZIDE DIURETICS NEUTROPENIA-GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR SURGICAL MANAGEMENT HEPATIC ADENOMA, < 2CM –PERCUTANEOUS ETHANOL INJ/TRANSCATHETER ATERIAL EMBOLIZATION HEPATIC ADENOMA >2CM SURGICAL RESECTION RL –AVOIDED ENZYME REPLACEMENT THERAPY-SPECIFIC
- 18. Pompe's disease (TypeII) Enzyme deficiency: (acid maltase). Glycogen accumulates in lysosomes in all most all the tissues. Enlargement of heart (cardiomegaly). Nervous system is also affected. No hypoglycemia Death occurs due to heart failure.
- 25. TREATMENT ENZYME REPLACEMENT-ALGLUCOSIDASE alpha IMMUNOMODULATOR-MTX,RITUXIMAB,IVIG-AB AGAINST ERT
- 26. Coris’disease (Type III) LimitDextrinosis (Forbe’s Disease) Enzyme deficiency: Amylo a-1,6-glucosidase (debranching enzyme) Organs affected - Liver (Hepatomegaly), muscle, Heart, leucocytes Branched chain glycogen accumulates. Clinical manifestations are similar to von Gierke's disease but glycogen is abnormal. Moderate hypoglycemia.,splenomegaly prsnt,no renal hepatic adenoma,uric acid,lactic acid
- 28. Anderson’s disease (amylopectinosis)(Type IV) Enzyme deficiency: (branching enzyme) Glycogen deposited is abnormal. Glycogen with only few branches accumulate. Organs mainly affected - liver (Hepatomegaly), heart, muscle & kidney. Moderate hypoglycemia, ascites, cirrhosis of liver & hepatic failure & usually fetal.
- 29. CLINICAL PRESENTATION PERINATALFORM-FETAL AKINESIA DEFORMATION SEQUENCE AND DEATH CONGENITAL FORM-SEVERE HTPOTONIA,MUSCLE ATROPHY,NEURONAL INVOLVMENT,DEATH IN NEONATAL PERIOD CHILDHOOD FORM-CARDIOMYOPATHY ADULT FORM-ADULT POLYGLUCOSAN BODY DISEASE(CARDIOMYOPATHY +DIFFUSE CNS AND PERIPHERAL NS DYSFUNCTION
- 30. DIAGNOSIS LIVER,HEART,SKIN,BRAIN,INTESTINE,SPINALCORD DEPOSITIONOF AMYLOPECTIN LIKE MATERIAL WORST PROGNOSIS EALY ONSET LIVER CIRRHOSIS TREATMENT- LIVER TRANSPLANT HYPOGLYCEMIA-RARE
- 31. McArdle’s disease (Typev) Enzyme deficiency: Muscle glycogen phosphorylase Glycogen deposited is normal in structure. Organs involved - skeletal muscle. Muscle cramps on exercise, pain, weakness & stiffness of muscles. No lactate is formed. Muscle may get damaged.
- 33. SYMPTOMS EASY FATIGABILITY EXERCISE INTOLERANCE PAIN SECOND WIND-STOP AS PAIN OCCURS THEN CAN GO FOR A PROLONGED DURATION 35 PERCNT DEVLOP PAIN AT REST CAN CAUSE ARF DUE TO RHABDOMYOLISIS 50% case burgundy clr urine
- 34. INVESTIGATION CPK TEST SERUM LACTATE SERUM URIC ACID SERUM AMMONIA ALL RAISED WITH EXERCISE -MUSCLE BIOPSY-TO ASSES GLYCOGEN
- 35. TREATMENT PREVENT VIGORUSEXERCISE GLUCOSE SUCROSE TO BE GIVEN PRIOR TO EXERCISE GLUCAGON BEFORE EXERCISE ERT
- 36. Her’s disease (TypeVI) Enzyme deficiency: Liver glycogen phosphorylase. Glycogen deposited is normal in structure. Organs mainly affected liver. Hepatomegaly, moderate hypoglycemia, mild acidosis, liver glycogen cannot form glucose (pyruvate & lactate can be precursors for glucose).
- 37. Tarui’s disease (TypeVII) Enzyme deficiency: Phosphofructokinase Organs affected - skeletal muscles. Accumulation of glycogen in skeletal muscles. Glucose 6-phosphate & fructose 6-phosphate is also accumulated. Muscle cramps.
- 38. CLINICAL MENIFESTATION EXERCISEINTOLERANCE after taking carbohydrate meal HEMOLYSIS WITH INCREASE SR BILIRUBIN INCRESE RETICULOCYTE COUNT HYPERURECIMIA AFTER EXERCISE SECOND WIND PHENOMENON DEATH WITH IN 4YRS SOME CASES-HYPOTONIA,DEV.DELAY AND SEIZURE DIAGNOSIS ABSENCE OF M ISO ENZYME OF PFK IN MUSCLE,BLOOD CELLS AND FIBROBLAST TREATMENT -PREVENT STRENOUS EXERCISE TAKING KRTOGENIC DIET SIMPLE CARBOHYDRATE BEFORE EXERCISE
- 39. TYPE IX GSD ENZYME-PHOSPHORYLASE KINASE DEFICIENCY 4 SUB UNITS IN DIFFERENT CHROMOSOME- ALPHA,BETA,GAMMA,DELTA CLINICAL FEATUREA HEPATOMEGALY HYPOTONIA GROSS MOTOR DEV DELAY HYPOGLYCEMIA,NO LACTIC ACIDOSIS DIAGNOSIS –PHOSPHORYLASE KINASE DEFICIENCY TREATMENT-LIKE GSD1 ALONG WITH ERT
- 40. TYPE XI ,FANCONI-BICKEL SYNDROME ENZYME-GLUCOSE TRANSPORTER GLUT 2(TRANSPORT GLUCOSE IN AND OUT OF HEPATOCYTE,PANCREATIC BETA CELL ,INTESTINE AND PCT) 75% H/O CONSANGUINITY C/F-SIMILAR TO GSD TYP1 INTESTINAL MALABSORPTION DIARRHOEA REPEATEDBONE FRACTURE
- 41. DANON DISEASE DUETO DEFICIENCY OF LYSOZOMAL ASSOCIATED MEMBRANE PROTEIN 2 WHICH LEADS TO ACCUMULATION OF GLYCOGEN IN HEART AND MUSCLE CAUSING HCM,SKELETAL MUSCLE WEAKNESS C/F CHEAST PAIN PALPITATION SYNCOPE CARDIAC ARREST AGE B/W 8-15 YRS EYE CHANGES-PERIPHERAL PIGMENTORY RETINOPATHY,LENS CHANGE,ABN ELECTRO RETINOGRAM
- 42. CONTD… X LINKEDDOMINANT INHERITENCE INVESTIGATION GENETIC TESTING FOR LAMP2 GENE TREATMENT SYMPTOMATIC CARDIAC TRANSPLANT
- 43. TYPE 0 GSD ENZYME DEF-GLYCOGEN SYNTHATASE DECREASE GLYCOGEN STORE IN LIVER CLINICAL FEATURE-PRE BREAKFAST DROWSINESS,PALLOR,FATIGUE,CONVULSION TREATMENT-LIKE GSD1 PROGNOSIS -GOOD
- 44.