McArdle disease SlideShare

GSD, glycogen storage disease - SlideShar

Glycogen storage disease (gsd) - SlideShar

c. Patients with this disease are known to sur­vive well into adult life. Glycogen Storage Diseases: Type # 3. Amylopectinosis: a. This disease is due to the deficiency of the branching enzyme in the liver. b. Amylopectin's are formed in the liver, heart, kidney and muscle. c. The disease is fatal, survival being four years Glycogen storage disease (GSD) is a rare genetic disorder that affects about one in 20,000 people in the U.S.[*].People with GSD have trouble synthesizing and breaking down glucose, which can cause a laundry list of health issues, including chronic low blood sugar, enlarged liver, weak muscles, and more For instance, McArdle disease is due to a lack of enzyme that assists in carbohydrate metabolism. A different kind of metabolic myopathy caused by acid maltase deficiency is called Pompe disease. Mitochondrial metabolic myopathy is another type that results from a lack of a particular enzyme normally present in the mitochondria, the energy. Type V (McArdle's disease). Type VI (Hers' disease). Type VII (Tarui's disease). Type IX (liver phosphorylase kinase deficiency). Type XI (Fanconi-Bickel syndrome). Type 0 (Lewis' disease). Type I glycogen storage disorder is the most common. About one quarter of people who have glycogen storage disorder have type I

Symptoms of metabolic disorders will vary among individuals and by the type of disorder. Some metabolic disorders result in mild symptoms that can be managed with medication and lifestyle changes, while others can cause severe and life-threatening symptoms, such as breathing problems, seizure, and organ failure Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose. Glycogen is a main source of energy for the body. Glycogen is stored in the liver. When the body needs more energy, certain proteins called enzymes break down glycogen into glucose Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The neonatal and infantile forms are severe multisystemic diseases characterized. An enlarged liver is linked to low blood glucose levels because excess glycogen is stored in the liver instead of being released as glucose in the blood stream. Symptoms of low blood glucose, or hypoglycemia, include sweating, tremor, drowsiness, confusion and sometimes seizures McArdle disease is a rare metabolic myopathy caused by a complete absence of the enzyme muscle glycogen phosphorylase. Affected people experience symptoms of fatigue and cramping within minutes of exercise and are at risk for acute muscle injury (rhabdomyolysis) and acute renal failure. If the first few minutes of exercise are paced, a second.

Glycogen disorder disease - SlideShar

McArdle disease affects approximately 1 of 100,000 people. Carnitine palmitoyl transferase deficiency is the most commonly identified metabolic cause of recurrent myoglobulinemia in adults and has been reported in more than 150 patients. Other forms of metabolic myopathies are much less common. Approximately 2% of the population is homozygous. McArdle 11. The disease was first reported in 1951 by Dr. Brian McArdle of Guy's Hospital, London. (bionity.com) The typical features of McArdle disease include exercise intolerance with myalgia, early fatigue, and stiffness of exercising muscles, which are sometimes relieved by rest. (bionity.com) GSD V is also called McArdle disease

Myotonic muscle disorders - SlideShar

Glycogen storage disease type V. GSD type V, also known as McArdle disease, affects the skeletal muscles. It is an autosomal recessive disorder in which there is a deficiency of glycogen phosphorylase.McArdle reported the first patient in 1951. Initial signs of the disease usually develop in adolescents or adults Type 1 diabetes is a disease in which the body does not make enough insulin to control blood sugar levels. Type 1 diabetes was previously called insulin-dependent diabetes or juvenile diabetes. During digestion, food is broken down into basic components. Carbohydrates are broken down into simple sugars, primarily glucose In contrast to McArdle disease (GSD V)—another rather frequent metabolic myopathy that causes rhabdomyolysis—patients with CPT II deficiency do not suffer from muscle cramps. In addition to the muscle form of CPT II deficiency, a multisystemic form is seen in infants, affecting the liver and heart and sometimes associated with muscle weakness Delaney NF, Sharma R, Tadvalkar L, Clish CB, Haller RG, Mootha VK. Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy. Proc Natl Acad Sci U S A. 2017; 114 (31): p.8402-8407. doi: 10.1073/pnas.1703338114 . | Open in Read by QxM Muscular dystrophy is a group of inherited diseases that damage and weaken your muscles over time. This damage and weakness is due to the lack of a protein called dystrophin, which is necessary.

This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. The NIDDK translates and disseminates research findings to increase knowledge and understanding about health and disease among patients, health professionals, and the public Metabolic myopathies • Mutations in genes that code for enzymes involved in the metabolism of carbohydrates, fats, and proteins to CO2 and H2O in the muscle and production of ATP • Exercise intolerance and possibility of muscle breakdown due to accumulation of toxic metabolites • Ex: McArdle's disease 29 SlideShare Explorar Pesquisar Voc Glycogen storage diseases Disease type Enzyme defect Tissue involved Clinical manifestations Type V McArdle's disease Muscle phosphorylase Autosomal recessive Muscle Poor exercise tolerance, cramps, muscle glycogen abormally high, Blood lactate lo

This is a brief description of Von Gierke's Disease Type 1 Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your. Disease self-management, including taking and managing medication, self-monitoring of blood glucose and blood pressure, and . Prevention of diabetes complications, which includes self-monitoring of foot health, active participation in screening for eye, foot, and renal complications, and immunizations.. MarinaF. McArdle's Disease :The Unsolved Mystery of the Reappearing Enzyme. Am J Pathol. 1999 June; 154(6): 1893-1897. 8. Meier-Ruge WA, Bruder E.Current Concepts of Enzyme Histochemistry in Modern Pathology. Pathobiology 2008;75:233-243. 9. Hardonk MJ, Koudstaal J.Enzyme histochemistry as a link between biochemistry and morphology McArdle Katch Katch Fundamentos de fisiología del ejercicio. f Fundamentos de fisiología del ejercicio Segunda edición William D. McArdle Catedrático Emérito Department of Family, Nutrition and Exercise Science Queens College of the City University of New York Flushing, New York Fran I. Katch Catedrático Department of Exercise Science.

Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a defective gene that results in an enzyme deficiency. Rhabdomyolysis is a potentially life-threatening syndrome resulting from the breakdown of skeletal muscle fibers with leakage of muscle contents into the circulation. The most common causes are. Definition/Description1,2. Polymyositis (PM) is a chronic inflammatory myopathy, which is classified as a persistent inflammatory muscle disease. PM affects striated muscle fibers, but spares smooth muscle throughout the body and can come on gradually over weeks or months. PM targets proximal musculature, with little to no pain, impairing. Unlike McArdle's disease, the forearm ischemic test reveals a normal rise in serum lactic acid level, but not in ammonia level (Fishbein et al., 1978). To date, affected individuals have had a homozygous C to T transition at nucleotide 34 ( Morisaki et al., 1992 ) McArdle B. Myopathy due to a defect in muscle glycogen breakdown. Clin Sci. 1951. 10:13-33. Nogales-Gadea G, Godfrey R, Santalla A, Coll-Cantí J, Pintos-Morell G, Pinós T, et al. Genes and exercise intolerance: insights from McArdle disease. Physiol Genomics. 2016 Feb. 48 (2):93-100.

glycogen storage disorders - slideshare

We are open for safe in-person care. Learn more: Mayo Clinic facts about coronavirus disease 2019 (COVID-19) Our COVID-19 patient and visitor guidelines, plus trusted health information Latest on COVID-19 vaccination by site: Arizona patient vaccination updates Arizona, Florida patient vaccination updates Florida, Rochester patient vaccination updates Rochester and Mayo Clinic Health System. UPDATED EKG Basics | https://youtu.be/CNN30YHsJw0Ninja Nerds,During this lecture you will be able to learn the EKG/ECG basics. Follow along with Zach as he w.. McArdle disease (10) Summary. Glycogenesis is the formation of glycogen, which serves as an energy reservoir. It is mainly found in the muscles and liver cells of humans and animals. It is synthesized from glucose when there is an abundant supply of glucose in the blood. If the supply of glucose in the blood is deficient, glycogen will be.

Glycogen Storage Disorders Ppt Slideshare Dandk Organize

  1. Gaucher disease (pronounced go-shay) belongs to a family of disorders identified as lysosomal storage diseases. The disease is named for the French physician, Philippe Gaucher, who first described the disorder in 1882. Gaucher disease is an autosomal recessive disorder that is characterized by the lysosomal accumulation of.
  2. Definition / general. Called GSD, also glycogenosis and dextrinosis. Due to defects in glycogen synthesis or breakdown within muscles, liver, other cell types; either genetic or acquired ( Wikipedia: Glycogen Storage Disease [Accessed 27 October 2017] ) Estimated to occur in 1 per 20,000 - 25,000 births in US; 1 per 40,000 births elsewhere
  3. Addison disease is also associated with a characteristic sequelae of biochemical presentations. These include hyponatremia, hypoglycemia, hyperkalemia, unexplained eosinophilia, and mild prerenal azotemia (accumulation of urea and creatinine in the body). The typical history and clinical findings of chronic primary adrenal insufficiency include.
  4. Various rare inherited diseases of glycogen storage produce abnormalities in glycogenolysis. For example, glycogen storage disease type V (McArdle disease) results in a lack of glycogen phosphorylase, which impairs glycogen breakdown and prevents muscles from meeting the energy demands of exercise. Glycogen storage disease type III (Cori, or Forbes, disease) is caused by mutations in a gene.
  5. Metabolic disease - Metabolic disease - Disorders of carbohydrate metabolism: The metabolism of the carbohydrates galactose, fructose, and glucose is intricately linked through interactions between different enzymatic pathways, and disorders that affect these pathways may have symptoms ranging from mild to severe or even life-threatening
  6. The Basic Principles in Exercise Physiology [edit | edit source]. The body's responses to a single bout of exercise are regulated by the principle of homeostasis. Homeostasis is defined as the ability of the body to maintain a stable internal environment for cells by closely regulating various critical variables such as pH or acid base balance, oxygen tension, blood glucose concentration and.
  7. The second wind phenomenon in McArdle's disease. Brain 1986 ;109: 1087 - 1101 14. Haller RG, Vissing J. [doi.org

Polymyositis (PM) is an acquired, idiopathic, inflammatory myopathy. Dermatomyositis (DM) is a type of myopathy associated with inflammatory cutaneous lesions. Both conditions may also cause inflammatory lesions of the heart, pulmonary interstitium, and in the case of DM, blood vessels. The etiology of PM and DM is unknown; however, autoimmune. calculus, GERD (Gastro-esophageal Reflux Disease), oral hypersensitivity, and are at high risk for aspiration in the dental chair. No antibiotic premedication is needed for Gastric or Nasogastric tubes. Position the patient in as upright a position as possible and utilize low amounts of water and high volume suction to minimize aspiration Caries is a disease that is relatively slow to develop compared with pericoronitis and as a consequence caries develops later in patients by McArdle L W . Oral surgery referral patterns 2004. In Type V (McArdle's disease) there may be a peripheral vacuolar appearance where glycogen has accumulated (see below). In severe cases of childhood cases of acid maltase deficiency (Pompe's disease) vacuoles are marked and ultrastructurally their membrane can be seen (see Ch. 5). These vacuoles do not always label with antibodies to.

Inborn errors of metabolism - SlideShar

Meet the MDA Care Center Team. Since MDA was founded in 1950, life expectancy and quality of life has vastly improved for individuals with neuromuscular diseases. Children and adults are living longer and growing stronger as a result. This is due in large part to the best-in-class, comprehensive care provided to families from a wide variety of. Ribose is a kind of sugar that is produced by the body. It is used as a medicine. Ribose is used for heart disease, mental function, athletic performance, chronic fatigue syndrome (), fibromyalgia. • Glycogen storage disease [slideshare.net] Haller, Metabolic and Mitochondrial Myopathies, Neurologic Clinics, 32, 3, (777), (2014). [doi.org] One hallmark of McArdle disease is weakness with exertion. Proximal muscle weakness may progress with time, and no specific treatment exists

Laboratory diagnosis of muscle diseases - SlideShar

  1. June 15, 2021. Type I glycogen storage disease (GSD I), also known as von Gierke's disease, is the most common form of glycogen storage disease, accounting for 25% of all cases. It is an inherited disorder that affects the metabolism - the way the body breaks food down into energy. After we eat, excess glucose is stored in the liver as.
  2. imally and moderately invasive surgical procedures. This array of therapeutic options provides us with th
  3. For example, in McArdle disease, myophosphorylase deficiency leads to inability to mobilize glycogen that is needed for muscular activity for movement or for development of isometric tension needed to hold or carry heavy objects. A patient with this disorder has pain (sometimes cramps) and weakness during the anaerobic phase of exercise..

The clinical hallmarks of muscle phosphorylase deficiency (McArdle's disease) are muscle cramps and exercise intolerance, contracture following ischemic work, and episodic Muscle cramps on exercise Muscle cramps on exertion Muscle cramps with exertion [ more ] 0003710 Exercise -induced myoglobinuria 0008305 Gout 0001997 Hemolytic anemia 0001878. Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds. More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2. Presbyopia is an eye condition that affects your ability to focus on close-up objects. Learn about what causes it and how to spot the symptoms Compartment pressure syndrome: preventive measures. The following are preventive measures for compartment syndrome: Preoperative evaluation of the patient's personal and family history should be carried out to look for any previous compartment syndrome-like symptoms; patients with McArdle's disease are contraindicated

Laboratory diagnosis of muscle diseases

Von Gierke's Disease - SlideShar

Paget's Disease of the Nipple. Paget's disease of the nipple is a rare form of breast cancer in which cancer cells collect in or around the nipple. The cancer usually affects the ducts of the nipple first then spreads to the nipple surface and the areola. A scaly, red, itchy, and irritated nipple and areola are signs of Paget's disease of the. McArdle's disease (glycogen storage disease type V) leads to increased glycogen in skeletal muscle, with a marked decrease in muscle working capacity and a lack of lactate increase in blood after exercise. This disease is caused by the deficiency or absence of phosphorylase activity in muscle

Genetics ppt - SlideShar

Muscular dystrophy, a rare inherited disease that causes weakness, breakdown, and loss of function of skeletal muscles. It mostly occurs in males. Rhabdomyolis, a rapid breakdown of muscle tissue. It can be caused by a serious injury, muscle disease, or other disorder. The test can be used to help diagnose a heart attack, though not very often Glycogen-storage-disease-type-2 & Huge-qrs-complexes Symptom Checker: Possible causes include Glycogen Storage Disease Type 2. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search

Top 10 Types of Glycogen Storage Disease

Maternal immunization is a safe, efficacious, and logistically feasible strategy to provide protection against vaccine-preventable diseases in pregnant women, fetuses, and neonates. Pregnant women are able to generate robust immune responses to vaccines and to transmit antibody to infants through the placenta Mozaffarian D, Benjamin EJ, Go AS, Arnett DK, Blaha MJ, et al, et al. Heart disease and stroke statistics--2015 update: a report from the American Heart Association. Circulation . 2015 Jan 27. 131. Definition of bacterial meningitis. Bacterial meningitis is an inflammation of the meninges, in particular the arachnoid and the pia mater, associated with the invasion of bacteria into the subarachnoid space, principles known for more than 100 years [Flexner, 1907].The pathogens take advantage of the specific features of the immune system in the CNS, replicate and induce inflammation. We present an adolescent with McArdle disease and recurrent acute kidney failure due to rhabdomyolysis. [ncbi.nlm.nih.gov] Dehydration caused by drastically reduced fluid intake or excessive use of diuretics (water pills) is a major cause of prerenal ARF

An inherited enzyme deficiency leading to the disruption of normal bodily metabolism. Accumulation of a toxic substrate. Impaired formation of a produ Neuromuscular disorders affect the nerves that control voluntary muscles and the nerves that communicate sensory information back to the brain. Nerve cells (neurons) send and receive electrical messages to and from the body to help control voluntary muscles. When the neurons become unhealthy or die, communication between the nervous system and muscles breaks down The most notable muscle glycogen storage disease is Pompe disease (type II GSD) due to it being featured in the recent movie Extraordinary Measures. Several glycogenoses are the result of deficiencies in enzymes of glycolysis whose symptoms and signs are similar to those seen in McArdle disease (type V GSD). These include deficiencies in. With McArdle disease, muscle enzymes and creatine levels usually are elevated in the blood after a symptomatic episode. In this condition, muscle histology demonstrates marked increase in glycogen stores in the myofibrils. Histochemical or immunoassays for specific enzymes can augment laboratory diagnosis by identifying the precise enzyme defect Prion diseases comprise several conditions. A prion is a type of protein that can trigger normal proteins in the brain to fold abnormally. Prion diseases can affect both humans and animals and are sometimes transmitted to humans by infected meat products. The most common form of prion disease that affects humans is Creutzfeldt-Jakob disease (CJD)

Glycogen Storage Disease: Causes, Types, And Treatments

  1. The coronavirus disease (COVID-19) has been identified as the cause of an outbreak of respiratory illness in Wuhan, Hubei Province, China beginning in December 2019. As of 31 January 2020, this epidemic had spread to 19 countries with 11 791 confirmed cases, including 213 deaths. The World Health Organization has declared it a Public Health Emergency of International Concern
  2. Felice KJ, Schneebaum AB, Jones HR Jr. McArdle's disease with late-onset symptoms: case report and review of the literature. (medscape.com) Symptoms usually occur within the first few months of life and the disease is fatal in early childhood. (jfcssnj.org) Symptoms may be similar to McArdle's glycogen storage disease but more severe. (51digg.info
  3. The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V). *Glycogen Storage Disease Type V GSD 0 is caused by a deficiency of glycogen synthase (GS), a key-enzyme of glycogen synthesis. (slideshare.net) The glycogen branching enzyme (GBE) is an enzyme of glycogen synthesis necessary to produce the.
  4. Because creatinine originates in muscles, people with more muscle tend to have higher levels. The normal creatinine range is slightly higher in men than in women — about 0.6 to 1.2 mg/dL in men and about 0.5 to 1.1 mg/dL in women. High creatinine means that your blood test result is greater than the highest number of the normal range provided by the lab

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Metabolic Myopathy Johns Hopkins Medicin

Case Study McArdle Disease Case Study of a 40-Year-Old Patient with a Below-Knee-Amputation due to Uncontrolled Diabetes in Rural Belize: Amputee Case Study Case Study of A Post-operative Transfemoral Amputee during the Pre-Prosthetic Phase of Rehabilitation: Amputee case Stud The arteries are the blood vessels that deliver oxygen-rich blood from the heart to the tissues of the body. Each artery is a muscular tube lined by smooth tissue and has three layers: The intima. Type V (McArdle disease) is a GSD in which the skeletal muscles are principally affected, as the enzyme that is supposed to break down glycogen, myophosphorylase (or glycogen phosphorylase), is not present, leading to cramping, myalgia, profound premature fatigue and elevations of creatine kinase (CK) [7]. For unknown reasons, a gender. Rhabdomyolysis (literally, dissolution of skeletal muscle) is a syndrome caused by injury to skeletal muscle and involves leakage of large quantities of potentially toxic intracellular contents into plasma. First described in the victims of crush injury during World War II, it is a final pathway of diverse processes and insults This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it

For example, in McArdle disease, myophosphorylase deficiency leads to inability to mobilize glycogen that is needed for muscular activity for movement or for development of isometric tension needed to hold or carry heavy objects. A patient with this disorder has pain (sometimes cramps) and weakness during the anaerobic phase of exercise.. Chromium is a mineral. It is called an essential trace element because very small amounts of chromium are necessary for human health. There are two forms of chromium Introduction to Tay-Sachs Disease. Tay-Sachs disease is an autosomal recessive disease that is a member of a family of disorders identified as the G M2 gangliosidoses. The G M2 gangliosidotic diseases are severe psycho-motor developmental disorders caused by the inability to properly degrade membrane associated gangliosides of the G M2 family (see Figure below and the Sphingolipid and Ceramide. Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme in the pentose phosphate pathway (see image, also known as the HMP shunt pathway). G6PD converts glucose-6-phosphate into 6-phosphoglucono-δ-lactone and is the rate-limiting enzyme of this metabolic pathway that supplies reducing energy to cells by maintaining the level of the reduced form of the co-enzyme nicotinamide adenine dinucleotide. Disease Division Director, Refractive Surgery Service Duke University Eye Center Durham, North Carolina CME Reviewer for New York Eye and Ear Infirmary of Mount Sinai Priti Batta, MD Assistant Professor of Ophthalmology Icahn School of Medicine at Mount Sinai Director, Medical Student Education Assistant Director, Comprehensive Ophthalmology.

Glycogen Storage Disorders

The main causes of increased bilirubin mostly are: race, genetic polymorphisms; inherited and acquired defects e.g. spherocytosis, Gilbert's syndrome, Najjar 1 and 2 Molecular genetics studies have shown the correlations between neonates hyperbilirubinemia and different genetic variations which can change in enzyme activity Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances ()) into others ().In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the. Merck & Co., Inc., Kenilworth, NJ, USA is a global healthcare leader working to help the world be well. From developing new therapies that treat and prevent disease to helping people in need, we are committed to improving health and well-being around the world. The Merck Manual was first published in 1899 as a service to the community

Glycogen storage disorders pathologyPathophis of carbohydrates and lipids metabolismGlycogen Storage Disorders Ppt Slideshare | Dandk OrganizerGlycogen storage disease (gsd)Enfermedad de TauriRhabdomyolysis

Kishnani PS, Austin SL, Abdenur JE, et al. Diagnosis and management of glycogen storage disease type I: Practice guideline of the American College of Medical Genetics and Genomics. Genetics in Medicine 2014; 1-29. Kishnani PS, Austin SL, Arn P et al. Glycogen storage disease type II diagnosis and management guidelines The Current Impact of Cardiovascular Genetics. The cardiovascular arena has been a focus of much work on the practical application of genetics. Given the potential for coincident presentation and demise in sudden death and the availability of the implantable defibrillator (a mechanism-agnostic preventive therapy), cardiovascular medicine has been focused on the predictive utility of genetics. In McArdle disease, the deficient enzyme is muscle glycogen phosphorylase; the disorder manifests as exercise-induced cramps and can lead to rhabdomyolysis and renal failure. Accelerated adenosine triphosphate breakdown and enhanced lactic acid formation can lead to hyperuricemia and gout. Tarui disease, on the other hand, is caused by.