GLYCOGEN STORAGE DISORDERS
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This document discusses six types of glycogen storage disorders caused by deficiencies in enzymes involved in glycogen metabolism. The six types are Von Gierke's disease, Pompe's disease, limit dextrinosis, amylopectinosis, McArdle's disease, and Her's disease. Each type is characterized by the deficient enzyme, inheritance pattern, glycogen structure, affected tissues, clinical features, and prognosis. The types vary in their symptoms and severity, from fatal in early infancy to survival into adulthood.
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Glycogen storage disorders pathology
Glycogen storage disease is caused by deficiencies in enzymes involved in glycogen metabolism. There are several types classified based on the enzyme deficiency and clinical manifestations. Type 1 is von Gierke disease where deficiency of glucose-6-phosphatase causes hypoglycemia and liver abnormalities. Type 2 is Pompe disease caused by acid alpha-glucosidase deficiency leading to glycogen accumulation in muscles. Treatments depend on the type but may include dietary modifications, enzyme replacement therapy, or gene therapy.
Glycogen storage disease
Glycogen storage disease is a group of metabolic disorders caused by the body's inability to properly store glycogen. There are several types classified by the enzyme deficiency. Type I involves the liver and causes low blood sugar and high lactate levels. Type III is caused by a debranching enzyme deficiency and results in an enlarged liver and low blood sugar. Type IV is a branching enzyme deficiency leading to liver enlargement and cirrhosis. Treatment focuses on managing symptoms and in some cases enzyme replacement therapy.
Glycogen storage diseases
Glycogen storage diseases are caused by defects in glycogen synthesis or breakdown. There are several types affecting the liver or muscle. Type I is caused by glucose-6-phosphatase deficiency leading to liver enlargement and low blood sugar during fasting. Type III involves a debranching enzyme defect causing swollen abdomen and muscle weakness. Type VI deficiency of liver phosphorylase causes hepatomegaly, hypoglycemia, and growth issues. Symptoms, diagnosis, and treatments vary depending on the specific enzyme deficiency and tissues involved.
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Glycogen metabolism, structure, synthesis, glycogenin,glucagon, epinephrine, insulin,glycogen storage diseases
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Glycogen storage diseases are a group of inherited metabolic disorders caused by deficiencies of enzymes involved in glycogen breakdown or synthesis. This leads to abnormal glycogen buildup in tissues. The main types are GSD I, III and IV. In GSD I, glucose-6-phosphatase is deficient causing hypoglycemia and liver enlargement. GSD III results from a debranching enzyme defect causing abnormal glycogen structure. GSD IV involves branching enzyme deficiency and liver cirrhosis. Symptoms vary by type but may include low blood sugar, enlarged liver, muscle cramps and failure to thrive. Treatment focuses on a high-carbohydrate diet and cornstarch to manage blood sugar levels. Prognosis depends on
GSD, glycogen storage disease
This is a presentation about Glycogen storage disease and its related aspects exclusively prepared for pharm D students.
GLYCOGEN STORAGE DISEASE , GSD , Von Gierke Disease
Detailed presentation about glycogen storage disease.
description about all types of GSDs like .
1. GSD I
2.GSD III
3. GSD IV
4. GSD VI
5. GSD IX
6. GSD 0
Glycogen storage disease
Glycogen storage disease is a rare genetic disorder that impairs the body's ability to process glycogen, the stored form of glucose. There are several types of glycogen storage disease caused by deficiencies in different enzymes involved in glycogen breakdown. The most common types are von Gierke disease (type I), Pompe disease (type II), and Cori or Forbes disease (type III). In type I, glycogen builds up in the liver due to a lack of an enzyme to convert glycogen to glucose, leading to low blood sugar and an enlarged liver. Type II affects multiple organs including the heart and muscles. Type III results from a deficiency in the debranching enzyme, causing glycogen to accumulate in the
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Glycogen storage disorders pathology
Glycogen storage disease is caused by deficiencies in enzymes involved in glycogen metabolism. There are several types classified based on the enzyme deficiency and clinical manifestations. Type 1 is von Gierke disease where deficiency of glucose-6-phosphatase causes hypoglycemia and liver abnormalities. Type 2 is Pompe disease caused by acid alpha-glucosidase deficiency leading to glycogen accumulation in muscles. Treatments depend on the type but may include dietary modifications, enzyme replacement therapy, or gene therapy.
Glycogen storage disease
Glycogen storage disease is a group of metabolic disorders caused by the body's inability to properly store glycogen. There are several types classified by the enzyme deficiency. Type I involves the liver and causes low blood sugar and high lactate levels. Type III is caused by a debranching enzyme deficiency and results in an enlarged liver and low blood sugar. Type IV is a branching enzyme deficiency leading to liver enlargement and cirrhosis. Treatment focuses on managing symptoms and in some cases enzyme replacement therapy.
Glycogen storage diseases
Glycogen storage diseases are caused by defects in glycogen synthesis or breakdown. There are several types affecting the liver or muscle. Type I is caused by glucose-6-phosphatase deficiency leading to liver enlargement and low blood sugar during fasting. Type III involves a debranching enzyme defect causing swollen abdomen and muscle weakness. Type VI deficiency of liver phosphorylase causes hepatomegaly, hypoglycemia, and growth issues. Symptoms, diagnosis, and treatments vary depending on the specific enzyme deficiency and tissues involved.
Final lect; 8 glycogen storage diseases
Glycogen metabolism, structure, synthesis, glycogenin,glucagon, epinephrine, insulin,glycogen storage diseases
Glycogen storage disease LB
Glycogen storage diseases are a group of inherited metabolic disorders caused by deficiencies of enzymes involved in glycogen breakdown or synthesis. This leads to abnormal glycogen buildup in tissues. The main types are GSD I, III and IV. In GSD I, glucose-6-phosphatase is deficient causing hypoglycemia and liver enlargement. GSD III results from a debranching enzyme defect causing abnormal glycogen structure. GSD IV involves branching enzyme deficiency and liver cirrhosis. Symptoms vary by type but may include low blood sugar, enlarged liver, muscle cramps and failure to thrive. Treatment focuses on a high-carbohydrate diet and cornstarch to manage blood sugar levels. Prognosis depends on
GSD, glycogen storage disease
This is a presentation about Glycogen storage disease and its related aspects exclusively prepared for pharm D students.
GLYCOGEN STORAGE DISEASE , GSD , Von Gierke Disease
Detailed presentation about glycogen storage disease.
description about all types of GSDs like .
1. GSD I
2.GSD III
3. GSD IV
4. GSD VI
5. GSD IX
6. GSD 0
Glycogen storage disease
Glycogen storage disease is a rare genetic disorder that impairs the body's ability to process glycogen, the stored form of glucose. There are several types of glycogen storage disease caused by deficiencies in different enzymes involved in glycogen breakdown. The most common types are von Gierke disease (type I), Pompe disease (type II), and Cori or Forbes disease (type III). In type I, glycogen builds up in the liver due to a lack of an enzyme to convert glycogen to glucose, leading to low blood sugar and an enlarged liver. Type II affects multiple organs including the heart and muscles. Type III results from a deficiency in the debranching enzyme, causing glycogen to accumulate in the
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There are 6 types of glycogen storage disorders caused by deficiencies in enzymes involved in glycogen metabolism. Type 1, Von Gierke's disease, is caused by glucose-6-phosphatase deficiency resulting in glycogen accumulation in the liver and intestines. This leads to hypoglycemia, hyperlipidemia, hypercholesterolemia, fatty liver, dwarfism, and sometimes gout. Type 2, Pompe's disease, is caused by acid maltase deficiency leading to glycogen buildup in the heart, liver, and muscles causing cardiomyopathy and muscle weakness. Infants usually do not survive past 9 months. Type 3, Forbes' disease, involves a debranching enzyme deficiency and limit dext
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Glycogen storage disorders are a group of inherited metabolic disorders caused by deficiencies in enzymes involved in glycogen synthesis or breakdown. There are several types classified by the affected enzyme and tissue. Type I, Von Gierke's disease, is caused by glucose-6-phosphatase deficiency affecting the liver and kidneys, leading to organ enlargement, high lactate levels, and gout. Type II, Pompe's disease, results from acid maltase deficiency impacting many tissues including heart, liver, and muscles. Symptoms range from cardiac failure in infants to late-onset muscle weakness. Treatment may include enzyme replacement therapy or diet modification.
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There are 6 types of glycogen storage disorders caused by deficiencies in enzymes involved in glycogen metabolism. Type 1, Von Gierke's disease, is caused by glucose-6-phosphatase deficiency resulting in glycogen accumulation in the liver and intestines. This leads to hypoglycemia, hyperlipidemia, hypercholesterolemia, fatty liver, dwarfism, and sometimes gout. Type 2, Pompe's disease, is caused by acid maltase deficiency leading to glycogen buildup in the heart, liver, and muscles causing cardiomyopathy and muscle weakness. Infants usually do not survive past 9 months. Type 3, Forbes' disease, involves a debranching enzyme deficiency and limit dext
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Glycogen storage disorders are a group of inherited metabolic disorders caused by deficiencies in enzymes involved in glycogen synthesis or breakdown. There are several types classified by the affected enzyme and tissue. Type I, Von Gierke's disease, is caused by glucose-6-phosphatase deficiency affecting the liver and kidneys, leading to organ enlargement, high lactate levels, and gout. Type II, Pompe's disease, results from acid maltase deficiency impacting many tissues including heart, liver, and muscles. Symptoms range from cardiac failure in infants to late-onset muscle weakness. Treatment may include enzyme replacement therapy or diet modification.
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Severe acute malnutrition is a standard term referred to a condition where a child has severe wasting and/or bilateral pedal edema.
The health, social and economic burden of this condition cannot be overemphasised. It is needful and timely yet again to reiterate and summarily but comprehensively outline the management of this condition. Thus, this presentation is a comprehensive summary of the management of severe acute malnutrition as outlined in standard paediatric textbooks.
A detailed explanation should however be sourced from standard texts and updated journals.
This presentation is cannot be cited or referenced in publications, presentations nor public fora.
The presenters:
Dr Efosa Emmanuel Aimien is a Paediatric Resident on outside posting at the National Hospital Abuja. He had his medical training at the prestigious College of Health Sciences, Ahmadu Bello Univeristy, Zaria. Nigeria.
Dr Zarah Fatima Abdu is a Paediatric Senior Resident at the Department of Paediatrics, National Hospital Abuja. Her vastness and clinical acumen in child health especially malnutrition is without question.
We hope this presentation contributes to the ease of gaining medical knowledge especially in Paediatrics.
Thank you.
Lysosomal Storage Diseases.pptx
Lysosomal storage diseases are a group of disorders caused by deficiencies in lysosomal enzymes, leading to an accumulation of substrates. Some key lysosomal storage diseases discussed include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, Krabbe disease, and Batten disease. Gaucher disease results from glucocerebrosidase deficiency and causes liver and spleen enlargement. Tay-Sachs disease is fatal in most cases due to hexosaminidase A deficiency, causing mental retardation and cherry red spots. Niemann-Pick disease involves sphingomyelinase deficiency and causes liver/spleen enlargement and neurological symptoms. Treatment options discussed are enzyme replacement therapy, gene therapy
Deficiency anemias
The document discusses various types of anemia classified based on pathophysiology and morphology. It defines anemia and provides the normal hemoglobin levels. It describes deficiencies in iron, vitamin B12, folic acid and their effects on red blood cell formation leading to anemia. Pernicious anemia results from lack of intrinsic factor causing impaired vitamin B12 absorption. Aplastic anemia is defined as pancytopenia from bone marrow failure and stem cell deficiency. The causes, clinical features and morphology of different anemias are explained.
Inborn errors of lipid metabolism
Definition:
Many childhood conditions are caused by gene mutations that encode specific proteins. These mutations can result in the alteration of primary protein structure or the amount of protein synthesized.
The functional ability of protein, whether it is an enzyme, receptors, transport vehicle, membrane, or structural element, may be relatively or seriously compromised.
These hereditary biochemical disorders are collectively termed as ‘’Inborn errors of metabolism’’
Inbornerrorsofmetabolism 120429124218-phpapp01 (4) (1)
Inborn errors of metabolism are genetic disorders involving defects in metabolic pathways. Common types include disorders of carbohydrate metabolism like glycogen storage disease, amino acid metabolism like phenylketonuria, and organic acid metabolism. Symptoms result from substrate accumulation or product deficiency. Treatment focuses on dietary management to control metabolite levels and prevent complications like hypoglycemia, organ damage, and neurological decline. Strict dietary therapy and monitoring are needed lifelong for many of these inherited metabolic diseases.
Lysosomal storage diseases
Lysosomal storage diseases are a group of disorders caused by deficiencies in lysosomal enzymes, leading to an accumulation of substrates. Some key lysosomal storage diseases discussed include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, Krabbe disease, and Batten disease. Gaucher disease results from glucocerebrosidase deficiency and causes liver and spleen enlargement. Tay-Sachs disease is fatal in most cases due to hexosaminidase A deficiency, causing mental retardation and cherry red spots. Niemann-Pick disease involves sphingomyelinase deficiency and causes liver/spleen enlargement and neurological symptoms.
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Pomps disease | genetic disorder |neuromuscular disease |GAA disorder
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Lipid profile
This document provides information about lipid profiles and their normal ranges. It discusses how to collect and process blood specimens for lipid profiles. It then defines the components of a lipid profile including total cholesterol, HDL cholesterol, LDL cholesterol, triglycerides, and VLDL cholesterol. For each component, it provides the normal ranges and clinical significance of abnormal levels. It also briefly discusses apolipoprotein B, phospholipids, chylomicrons, and factors that can increase or decrease their levels.
Introduction of biochemistry
Carbohydrates, lipids, proteins, and nucleic acids are the four major macromolecules that make up living things. Carbohydrates include sugars and starches and are used for energy storage. Lipids are composed of fatty acids and glycerol and function in energy storage, protection, and insulation. Proteins contain amino acids and perform a variety of functions including growth, energy production, and pH buffering. Nucleic acids like DNA and RNA contain nucleotides and store and transmit genetic information that directs cellular functions. These macromolecules are formed through dehydration synthesis and broken down through hydrolysis.
BIOCHEMISTRY OF LIPIDS
Lipids are a group of naturally occurring molecules that include fats, waxes, sterols, and fat-soluble vitamins. They serve important functions like storing energy, signaling, and as structural components of cell membranes. The document defines lipids and discusses their chemistry, classifications, structures, and biological importance. Key points covered include that lipids are insoluble in water but soluble in organic solvents, and include triglycerides, fatty acids, and other compounds.
ECOSANOIDS
Eicosanoids are oxygenation products of arachidonic acid (AA), a polyunsaturated fatty acid found in animal and plant cell membranes. AA is released from membranes by phospholipase A2 and metabolized via either the cyclooxygenase pathway to form prostaglandins, prostacyclin, and thromboxanes, or the lipoxygenase pathway to form leukotrienes. These eicosanoids are involved in various physiological functions including inflammation, smooth muscle tone, blood coagulation, reproduction, and GI secretion. Clinical applications of prostaglandins include female and male reproductive health, inflammation and immunity, gastrointestinal, respiratory, musculoskeletal, cardiovascular, ocular health, and cancer.
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Aerobic organisms continuously produce reactive free radicals through respiration, metabolism and phagocytosis. Approximately 1-2% of oxygen consumed is converted into superoxide radicals by the respiratory chain, one of the main sources of free radicals in cells. While oxygen is necessary for life, its partial reduction can produce reactive oxygen species (ROS) that damage living systems. The body has multiple antioxidant defenses to combat ROS, including superoxide dismutase, catalase, glutathione peroxidase and vitamin C, which help convert ROS into less reactive species and protect biomolecules from oxidative damage.
LIPID CHEMISTRY
Lipids are a group of naturally occurring molecules that include fats, waxes, sterols, and fat-soluble vitamins. They serve important functions like energy storage, signaling, and as structural components of cell membranes. The main classes of lipids are neutral fats/triglycerides (consisting of glycerol and fatty acids), phospholipids, and sterols. Fatty acids can be saturated or unsaturated, and polyunsaturated fatty acids like omega-3 and omega-6 are essential nutrients. Lipids are insoluble in water but soluble in organic solvents, and are an important energy source in animals and plants.
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Infectious diseases
This document discusses the importance of breastfeeding for infant health and development. It reviews several studies that show breastfeeding reduces the risk of morbidity and mortality from various infectious diseases like diarrhea, otitis media, neonatal sepsis, and respiratory infections. However, in many societies false beliefs interfere with breastfeeding and infants are commonly given prelacteal feeds or mixed feeding instead of being exclusively breastfed. The purpose of the study described is to examine the patterns of infectious diseases in non-breastfed infants compared to breastfed infants admitted to the hospital.
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This document describes a study comparing plasma osmolarity in healthy breastfed and non-breastfed infants. The study included breastfed and non-breastfed infants between 1-6 months of age. Blood samples were collected and analyzed for various biomarkers including glucose, BUN, sodium, potassium, total protein, and albumin levels. Plasma osmolarity was then directly estimated and calculated based on biomarker levels. Results showed breastfed infants had significantly lower glucose, BUN, and plasma osmolarity levels compared to non-breastfed infants. The study concluded breastfeeding provides a lower solute load compared to formula feeding, resulting in lower plasma osmolarity in healthy breastfed infants.
Introdction of metabolism
1. Metabolism refers to the chemical processes that take place in living organisms to sustain life. It includes breaking down nutrients into smaller units and building up complex molecules.
2. Glucose, fats, and proteins are broken down through various pathways to ultimately form acetyl CoA, which enters the citric acid cycle to generate energy in the form of ATP. Less oxygen results in lactic acid formation from glucose.
3. The electron transport chain uses oxygen to convert products of the citric acid cycle into large amounts of ATP, the main energy currency of cells. Fatty acids yield more ATP than glucose due to their carbon-hydrogen bonds.
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Conference proceedings
This document summarizes a study that compares the performance of two state observers - a sliding mode observer with super-twisting algorithm (STSMO) and a high gain observer (HGO) - for estimating unmeasured states of a quadrotor UAV. The paper designs each observer and then applies a second order sliding mode control technique using the estimated states to control the quadrotor. Simulations show the performance of each observer under the same control scheme and perturbations. The study aims to compare the observers' characteristics for state estimation of the quadrotor system to determine the best observer for real-time applications given system uncertainties and noise.
social media useage
This study examined the usage of social media by students at the FJMU Lahore. A questionnaire was distributed to 415 students to gather data on their social media usage patterns and behaviors. The results found that 95.9% of students used social media daily, with 77% spending 1-2 hours per day on social media. Major purposes of usage were communication (94%) and entertainment (93%), though 46% also used it for studying. Students reported social media could waste time and distract from studies, but could also be useful for sharing medical videos, knowledge and study guidelines. The study concludes social media distracts students and encourages more non-educational activities, so students should utilize it more for academic purposes and limit entertainment usage
DR MUHAMMAD MUSTANSAR
Dr. Muhammad Mustansar has achieved international recognition for his work. He holds a world record and has had his research published in international posters and books. His accomplishments demonstrate expertise in his field at a global level.
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This document provides information on various histopathology staining techniques. It describes the steps for taking paraffin sections to water, dehydrating and clearing sections in xylene, blotting sections dry, and mounting sections. It also details procedures for Ziehl-Neelsen staining for acid-fast bacilli, Gram-Twort staining for bacteria, Periodic acid Schiff staining, Periodic acid Schiff/Alcian blue staining, and the buffered Congo red method for amyloid. Precise reagents and safety notes are included for each technique.
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GLYCOGEN STORAGE DISORDERS
- 3. GLYCOGEN STORAGE DISORDERS These are a group of inherited disorders associated with glycogen metabolism, familial in incidence and characterized by deposition of normal or abnormal type and quantity of glycogen in the tissues
- 4. There are 6 classical types of glycogen storage diseases Type1)Von gierke’s disease Type2)Pompe’s disease Type3)Limit dextrinosis(Forbe’s disease) Type4)Amylopectinosis(anderson’s disease) Type5)McArdle’s disease Type6)Her’s disease
- 5. TYPE 1:Von gierke’s disease ENZYME DEFICIENCY :glucose-6phosphatase INHERITANCE : Autosomal recessive Liver cells and intestinal mucosal cells are fully loaded with glycogen and metabolically unavailable
- 6. CLINICAL AND BIOCHEMICAL FEATURES OF VON GIERKE’S DISEASE Only little amount of glucose is available is derived from liver So the children with this disease may tend to develop hypogycemia Fat is used as a energy source so it may lead to LIPAEMIA,ACEDEMIA and KETOSIS Excess of Acetyl coA is diverted for chosterol synthesis this may lead to elevated level of cholestrol and results in XANTHOMAS
- 7. Cont…. Increased fatty acid synthesis can produce fatty infiltration of liver PERSISTENT HYPOGLYCAEMIA has 2 effects Hypoglycemia inhibits insulin which in turn inhibits protein synthesis which results in DWARFISM Hypoglycemia stimulates the secretion of CATECHOLAMINES which cause muscle glycogen to break down producing lactic acid and LACTIC ACIDOSIS Increased blood lactic acid competes with urate excretion by kidneys leading to increased blood uric acid levels Children with increased uric acid synthesis may develop the symptoms of GOUT
- 8. PROGNOSIS Children with this disease may die young and some of them survive till adolescence
- 9. TYPE 2: POMPE’S DISEASE ENZYME DEFICIENCY : ACID MALTASE enzyme which is present in lysosome and catalyses the breakdown of oligosaccharides INHERITANCE : AUTOSOMAL RECESSIVE Here the glycogen structure is normal and the organs which are involved is HEART,LIVER,SMOOTH MUSCLE,AND STRAITED MUSCLE All the tissue contain excess of glycogen
- 10. CLINICAL FEATURES Enlargement of heart (cardiomegaly) Muscle weakness
- 11. PROGNOSIS Infants usually die due to cardiac failure and broncho pnuemonia Death usually occurs before 9 months
- 12. TYPE 3 : LIMIT DEXTRINOSIS(FORBE’S DISEASE) ENZYME DEFICIENCY : DEBRANCHING ENZYME INHERITANCE : AUTOSOMAL RECESSIVE GLYCOGEN STRUCTURE : LIMIT DEXTRIN TYPE Organs involved are heart liver and muscle
- 13. CLINICAL AND BIOCHEMICAL FEATURES • • • • • HEPATOMEGALY MODERATE HYPOGLYCEMIA ACIDOSIS PROGRESSIVE MYOPATHY Enzyme deficiency can be demonstrated in leucocytes
- 14. PROGNOSIS Survives well to adultlife
- 15. TYPE 4 : AMYLOPECTINOSIS(ANDERSON’S DISEASE) ENZYME DEFICIENCY : BRANCHING ENZYME INHERITANCE : NOT DEFINETELY KNOWN Glycogen deposited is abnormal type, few branch points and very long inner and outer unbranched chains LIVER is the mainly affected organ and other organs are HEART, KIDNEY, and MUSCLES Deposition is seen in RE SYSTEM
- 16. CLINICAL AND BIOCHEMICAL FEATURES HEPATOMEGALY SPLENOMEGALY MODERATE HYPOGLYCEMIA NODULAR CIRRHOSIS OF LIVER HEPATIC FAILURE Enzyme deficiency can be demonsrated in leucocytes and liver
- 17. PROGNOSIS Usually fatal Longest survival is reported as 4 years
- 18. TYPE 5 : McArdle’s disease ENZYME DEFICIENCY : MUSCLE PHOSPHORYLASE INHERITANCE : AUTOSOMAL RECESSIVE Glycogen deposited in normalstructure and the organs involved are skeletal muscles
- 19. CLINICAL FEATURES Muscle cramps on exercise Pain Stiffness and weakness of muscles
- 20. EPINEPHRINE TEST After administration of epinephrine rise in blood glucose occurs which shows that hepatic phosphorylase activity is normal
- 21. TYPE 6 : Her’s disease ENZYME DEFICIENCY : LIVER PHOSPHORYLASE Glycogen deposited is normal in structure Organs affected are mainly LIVER and LEUCOCYTES
- 22. CLINICAL AND BIOCHEMICAL FEATURES HEPATOMEGALY MODERATE HYPOGLYCEMIA MILD ACIDOSIS