This document discusses glycogen storage diseases (GSD), which are genetic disorders caused by defects in glycogen synthesis or breakdown. The main points covered are:
- GSDs result in abnormal glycogen buildup in tissues like the liver and muscles. Symptoms vary by type but include hypoglycemia, hepatomegaly, and muscle weakness.
- The document describes several types of GSD in detail, focusing on types I, II, IV, V, VI, and VII. It also provides information on affected enzymes for major types.
- Glycosuria, or glucose in the urine, is explained as being due to either high blood glucose levels exceeding the kidney's threshold or defects in the
This document discusses glycogen storage diseases (GSD), which are genetic disorders caused by defects in glycogen synthesis or breakdown. The main points covered are:
- GSDs result in abnormal glycogen buildup in tissues like the liver and muscles. Symptoms vary by type but include hypoglycemia, hepatomegaly, and muscle weakness.
- The document describes several types of GSD in detail, focusing on types I, II, IV, V, VI, and VII. It also provides information on affected enzymes for major types.
- Glycosuria, or glucose in the urine, is explained as being due to either high blood glucose levels exceeding the kidney's threshold or defects in the
This document discusses glycogen storage diseases (GSD), which are genetic disorders caused by defects in glycogen synthesis or breakdown. The main points covered are:
- GSDs result in abnormal glycogen buildup in tissues like the liver and muscles. Symptoms vary by type but include hypoglycemia, hepatomegaly, and muscle weakness.
- The document describes several types of GSD in detail, focusing on types I, II, IV, V, VI, and VII. It also provides information on affected enzymes for major types.
- Glycosuria, or glucose in the urine, is explained as being due to either high blood glucose levels exceeding the kidney's threshold or defects in the
This document discusses glycogen storage diseases (GSD), which are genetic disorders caused by defects in glycogen synthesis or breakdown. The main points covered are:
- GSDs result in abnormal glycogen buildup in tissues like the liver and muscles. Symptoms vary by type but include hypoglycemia, hepatomegaly, and muscle weakness.
- The document describes several types of GSD in detail, focusing on types I, II, IV, V, VI, and VII. It also provides information on affected enzymes for major types.
- Glycosuria, or glucose in the urine, is explained as being due to either high blood glucose levels exceeding the kidney's threshold or defects in the
due to either glycogen synthesis or degradation. •Characterized by depostion of either normal or abnomal glycogen in specific tissues •Their are at least 13 types of GDS ,here we discussed some of them those are imp Symptoms of GDS •Children with GDS cannot effectively catabolize glycogen. •Stored in huge quantities in liver. •Mostly effect in liver and muscles. •Symptoms vary based on types of GDS Continue.... 1. Type I, II, IV, VI (Hepatic forms):- • Storage of glycogen in liver( hepatomegaly ) • Reduction of glucose in blood( hypoglycemia) 2.Type V, VII( Myopathic forms):- • Glycogen deposition in muscles • Muscles weakness, pain and cramps after exercise • Exercise induced lactic acidosis due to block in glycolysis . 3.Type II( Pompe’s diseases):- • Accumulation of glycogen in lysosome, it affect heart. • Infantile form is very severe and infents dies with few months due to cardiac failure. Types of glycogen storage diseases and affected enzymes Type Name Affected enzymes
Type I Van Gierkes disease Glucose -6- phosphatase
Type II Pompe’s disease Acid maltase
Type III Cori’s forbes disese Debranching enzyme
Type IV Anderson’s disease Branching enzyme
Type V McArdle’s disease Muscle glycogen
phosphorylase Type VI Her’s disease Hepatic glycogen phosphorylase Type VII Tauri’s disease Phosphofructokinase Glycosuria • Excretion of detectable amount of Sugar in urine known as glycosuria. • Results from rise in blood gulcose level above in its renal threshold (180mg%) • Types of glycosuria:- 1. Alimentary G 2. Renal G 3. Diabetic G 1. Alimentary G:- • Blood glucose level raise rapidly after meal and result in glycosuria and known as alimentary G. • Due to increase in rate of absorption of glucose in intestine. • alimentary canal of GI track is involved. • In this type blood glucose level maintain after 2hrs of meal. • This type is benign (harmless) 2. Renal G :- • In renal G, glucose is excreted in the urine in spit of normal level of glucose in blood. • This happens because of a defect in the tubular cells of the kidney that reduce reabsorption of glucose. • It may be hereditary or acquired. • Hereditary renal G is due to defect in kidney such as fanconi syndrome. • Acquired renal G caused by certain drugs or disease. • It is diagnosed by routine urine test. 3. Diabetic G :- • Pathologic condition and due to deficiency or lack of insulin which causes DM • Blood glucose level exceeds renal thresholds the excess glucose passes into urine to produce glycosuria. Diabetes mellitus • DEFINATION :- its metabolic diseases characterized by hyperglycemia • caused by hereditary or acquired defects in insulin secretion ,insulin action or both • The chronic hyperglycemia of diabetes is associated with long term damage or dysfunction and failure of different organs. Types of DM 1. TYPE I:- or juvenil onset diabetes (insulin dependent ) • Causes:- it is caused by lack of insulin secretion due to destruction of pancreatic beta cell.destruction of beta cell due to viral infection, autoimmune disorders and hereditary tendancy of beta cell. • Onset :- occurs at 14years of age so it is also called as juvenil means teen age in latin • Symptoms:- 1. Polyuria ( frequent urination) 2. Polydypsia (excessive thirst) 3. Polyphagia (excessive hunger) 4. Loss of body weight, weakness and tiredness. • Hyperglycaemia with glycosuria and ketoacidosis are metabolic changes. • Patients of type I DM are not abese. • Treatment :- administration of exogenous insulin is required. 2.Type II DM :- (Insulin Independent) • Causes :- it is caused by decreased sensitivity of target tissues to insulin. This syndrome is often found in an obese person. • Onset :- occurs after 40 age and disorder develops gradually. So referred to as adult onset diabetes. • Symptoms : - symptoms are developed gradually similar to that of type I except ketoacidosis. • Tratment :- 1. Treated in early stages by diet control, exercise and weight reduction and no exogenous insulin administration is required. 2. Drugs that are increase insulin sensitivity such as thiazolidinediones and metformin and sulfonylureas 3. In later stage insulin adminitration is often required. THANK YOU