21. Gisurgery glucose6-phosphatase def.; big liver kidneys, growth retardation, electrolyteprob. mcardles disease. musclephosphorylase is absent, muscle cramps incr. http://www.angelfire.com/md3/usmle1/GASTRO.htm

DANIL HAMMOUDI.MD SINOE MEDICAL ASSOCIATION SURGERY GASTROENTEROLOGY Vitamins Vitamin A Night blindness, conjunctival dryness, corneal keratinization Vitamin D Ricketts - kids, long bone bowing; Osteomalacia-adults, demineralization Vitamin K Clotting deficiency with prolonged PT Thiamine (B Beriberi - peripheral neuropathy, Cardiomyopathy - dry or wet (high output failure) Wernicke-Korsakoff - Alcoholics, confabulation, nystagmus, confusion Niacin Pellagra - Diarrhea, dermatitis, dementia, death Pyroxidone (B Rare, neuropathy, Cheilosis (swollen cracked bright red lips) Cobalamin (B Macrocytosis, Pernicious Anemia- megaloblastic, neuro chg. ataxia, Schilling test Folate Macrocytosis, megaloblastic anemia w/o neuro chgs., common in alcoholics Vitamin C Scurvy, bleeding gums, Connective Tissue problems, Can manifest 1 yr post defic. Failure to Thrive Org.= decr. wt gain w/ other disease; Nonorg.=growth failure due to neglect ßstimulation Obesity BMI= body wt (kg)/Ht (mm ) Normal 20-25 Pickwickian Syndrome = obesity, dyspnea, hypovent, CO retention, hypoxia

22. Nutritional And Metabolic Diseases Hutchins (UK); A Case of mcardles disease (Glycogen Storage Disease,Type V) Lacomis Giuliani - U of Pittsburgh (US); About http://www.mic.ki.se/Diseases/c18.html

search help staff Nutritional and Metabolic Diseases Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Alphabetical List of Diseases Search PubMed at NCBI/NLM FDA Center for - (US) International Union of Nutritional Sciences - (AU) The Nutrition Navigator (rating guide) at Tufts University The USDA Nutrient Database for Standard Reference, rel 13 - (US) Nutritional Analysis Tool, ver 2.0 - U of Illinois (US) About some Diagnostic Tests Used in Evaluation of Malabsorption www.FoodSafety.gov Food Safety including a list of Organisms of concern - N Carolina Coop. Ext. Serv. (US) About Food Irradiation - BFE (DE) Facts about Food Irradiation - IAEA (AT) The British Nutrition Foundation Int'l Food Information Council , including a page on Food Additives , and Food Color Facts , and a Glossary of Food-Related Terms About Glutamate and Monosodium Glutamate - IFIC On Antioxidants and some questions/answers re Selenium G Combs ] - Cornell Cooperative Extension Facts about some dietary supplements - NIH Clinical Center (US) About Functional Food A Dowden ] - (UK) Epicurious Dictionary of Food The American Dietetic Association , and their position on Vegetarian Diets The Water FAQ - SoftWater.Com (US)

23. Southwestern Medical Helping mcardles disease. There may class. A neuromuscular conditioncalled mcardles disease causes victims to Provides a http://www.sh-d.com/kenny-wayne-shepherd-tab.htm

24. Nephrology is caused by a variety of causes including traumatic muscle injury, drugs and toxins,genetic disorders like mcardles disease, phosphofructokinase deficiency http://www.ijnephrol.com/aprjun2002/articleq29.html

His muscle biopsy showed non specific histological changes and histochemical examination and enzyme histochemical staining showed no enzyme deficiency. Discussion Back Content Next Introduction Myoglobinuria induced by excessive exercise even though described is a rare entity. Myoglobinuria is caused by a variety of causes including traumatic muscle injury, drugs and toxins, genetic disorders like McArdles disease, phosphofructokinase deficiency, alpha glucosidase deficiency, carnitine palmityl transferase deficiency, amylo-1, 6-glucosidase deficiency and phosphohexo-seisomerase deficiency. Infections like influenza, tetanus, legionella infection, shigellosis and salmonellosis, coxsackie virus, leptospirosis and streptococcal infections can also cause myoglobinuria. Excessive muscle activity, ischemia, electrolyte and endocrine disorders and immunologic diseases like polymyositis and dermatomyositis are rare causes of the same. Though the list is wide the rhabdomyolysis as such is not very common. Case Report A 19 year old non alcoholic boy, who performed a three hours continuous vigorous dance program on a hot humid summer afternoon (in a coastal city in northern Kerala) was admitted in our hospital 12 hours following this event with myalgia and acute renal shut down. He was able to drink water only after the program has ended. Few hours after this event he passed around 100ml of dark coloured urine after which he did not pass any urine till admission. In the past also he has had significant myalgia following exercise, but there were no definite urinary complaints. There was no similar history in the family. On examination he had no positive findings except for a raised BP of around 140/100 mm of Hg and muscle tenderness. His initial investigations showed a serum creatinine of 3.6mg% and blood urea of 70mg% which raised to a value of 9mg% and 194mg% respectively

25. S. Paul Handa Publications Caunt, C., Sohi, P., Handa, SP, et al mcardles disease Presenting An AcuteRenal Failure. Royal College of Physicians and Surgeons, Montreal. http://www.physiology.dal.ca/sph/sph-pub.htm

26. Choroby Vyzivy A Metabolizmu mcardles disease (Glycogen Storage Disease, Type V) Lacomis Giuliani Uof Pittsburgh (US). Pompe's Disease Page; McArdle Disease - Specialty Labs. http://www.medik.sk/lekari/chorob19.htm

Lekári / Choroby, syndrómy, dysfunkcie / Choroby výživy a metabolizmu Výber odkazov: - (US) - FDA Center IUNS - via Monash (AU) Nutrition Navigator (rating guide) at Tufts University USDA Nutrient Database for Standard Reference, rel 11 - (US) Nutritional Analysis Tool - U of Illinois (US) Food Safety - N Carolina Coop. Ext. Serv. (US) How to Help Avoiding Foodborne Illness in the Home - LYSOL/CIC (US) Food Irradiation - BFE (DE) British Nutrition Foundation American Dietetic Association Breast (feeding) is best! - U of Ume? (SE) The Water FAQ - (US) The Journal of Nutrition - Am. Soc. for Nutritional Sciences PORUCHY VݎIVY Nutritional Disorders E Friedlander Toxic-Metabolic-Nutritional Disorders of the Nervous System ] - Kobiljak C. (US) Nutrition and Health - AHSL, AZ (US) Vitamin and Mineral Toxicities in Adults - Univ. of Nebraska-Lincoln (US) A Pinch of Controversy Shakes Up Dietary Salt E Anderson ] - FDA Introduction to Coenzyme Q10 (Ubiquinone) - Int'l Coenzyme Q10 Assoc (IT) Human Nutrition Research Center at USDA/ARS Grand Forks Overview of Micronutrient Malnutrition , and Information Sources on Deficiency Disorders - MN-NET (CA) Reference Guide for Minerals - Austin Nutritional Center (US) Minerals SJ Gislason ] - (US) Obezita Obesity: The World's Oldest Metabolic Disorder M Blumenkrantz ] - (US) Information on Nutrition and Obeisty - NIDDK/NIH (US) FDA Announces Withdrawal of Fenfluramine and Dexfenfluramine , Sep '97 - Doctor's Guide (US) Position Statement on Obesity '96 by AACE/ACE (US)

27. · EP Lab 13 - Anaerobic Metabolism 1 1977) ® Is the LT due to increased production or reduced clearance? c) MusclepO2. d) mcardles disease. 12) Clinical significance of LT/VT/OBLA. http://www.biosci.ohiou.edu/faculty/schwirian/Bios 446/labs/Anaerobic1 EPOC & VT

28. ECSS Cologne 2001 - Inhalt 1850, COL0754 ABNORMAL CHANGES IN ACTIVITY OF MUSCLE GLYCOGEN SYNTHASE DURINGEXERCISE IN PATIENTS WITH mcardles disease Candidate YIA JN Nielsen, JF http://www.ecss2001.de/HTML/FinalProgramm/D27/D27TPS/T27TPS203.htm

Final Program - Thematic Parallel Sessions TPS03 Chronic disease and exercise D. Koutsouki [GRE] and J. Cabri [POR] COL0225 THE RELATIONSHIP OF FUNCTIONAL CAPACITY, PAIN AND ISOKINETIC TORQUE IN WOMEN WITH KNEE OSTEOARTHROSIS H.Gür, N. Cakin, B. Akova, S. Kücükoglu COL0332 EFFECT OF ENDURANCE TRAINING ON LIVER FUNCTION IN PATIENTS WITH NON-ALCOHOLIC STEATO HEPATITIS [Candidate YIA] J. Achten, D. Sutedja, J. Johnson, A. Jeukendrup, D. Jones, E. Elias COL0597 CARDIORESPIRATORY RESPONSES TO WATER TREADMILL WALKING IN PATIENTS WITH RHEUMATOID ARTHRITIS J. Hall, D. Blake, G. Garbutt COL0619 EFFECTS OF A THERAPEUTIC INTERVENTION WITH REGULAR EXERCISE ON PHYSICAL FITNESS OF OBESE CHILDREN AND ADOLESCENTS W. Lawrenz, A. Lawrenz, A. Chen-Stute, O. N. Krogmann COL0719 EFFECTS OF AN IN-PATIENT INLINESKATING-PROGRAM FOR PATIENTS WITH CYSTIC FIBROSIS B. Schaar, A. Hanssen-Doose, W. Gruber, D. Kiosz, S. Fischer, R. Jaeschke, P. Platen COL0754 ABNORMAL CHANGES IN ACTIVITY OF MUSCLE GLYCOGEN SYNTHASE DURING EXERCISE IN PATIENTS WITH MCARDLES DISEASE [Candidate YIA] J. N. Nielsen, J. F. Wojtaszewski, J. Vissing, R. G. Haller, B. E. Kemp, E. A. Richter

29. Second Year Biochemistry Deificiencies in these glycogen pathways leads to disease. There areseveral glycogen storage diseases, eg mcardles disease. Aims http://biocadmin.otago.ac.nz/bioc2/course2c.htm

Second year biochemistry course information. Lecture summary BIOC 213 (9 points) Human Metabolism The emphasis of the course will be on the integration, regulation and control of fundamental metabolic processes within tissues of the human body under normal physiological events such as fasting and exercise and the changes that occur in disease. Diseases occur if a critical enzyme is disabled by mutation or inhibitors or if a control mechanism for a metabolic pathway is affected. In addition, selected examples of specialised metabolic pathways and how these impact on disease processes will be described. Examples will be taken from human studies where possible, although the advantages and use of transgenic animal models to study disease will be discussed. The associated practical course will provide hands-on experience in some experimental methods that are used to acquire information about human metabolism and to analyse diseases. You will be able to plan your own experiments as well as interpret research data obtained from the literature and the Internet. In most cases you will be the volunteer subject and you will be analysing your own blood and urine samples for a variety of biochemical components. Introduction to Human Metabolism and its Regulation Extrabits 9 July-13 July (4 Lectures) Dr Mary Thompson Overview of the organisation of catabolic and anabolic pathways; interconversions; mechanisms of regulation. The physiological states of fed and fasted. Metabolic interrelationships of tissues. Methods of measuring metabolism. The Human Genome Project, metabolic databases and human diseases; prospects for the future.

30. Neuromuscular Center - Conditions (Glycolytic Defects) Glycolytic Defects Myophosphorylase Deficiency (mcardles disease) PhosphofructokinaseDeficiency (Tarui's Disease) Phosphoglycerate Mutase Phosphoglycerate http://ieemphd.com/nmc/glycolytic_defects.htm

Metabolic Myopathies Symptoms Glycolytic Defects Lipid Defects Mitochondrial Myopathies ... Defects Figure Glycolytic Defects Myophosphorylase Deficiency (McArdles Disease) Phosphofructokinase Deficiency (Tarui's Disease) Phosphoglycerate Mutase Phosphoglycerate Kinase ... Glycogen NOS Patients with most muscle glycolytic defects (particularly muscle phosphorylase, PFK, phosphoglycerate kinase, phosphoglycerate mutase, and lactate dehydrogenase deficiency), experience dynamic symptoms of exercise intolerance in which symptoms of fatigue, cramps, and pain are related specifically to the increased energy demands of exercise.

31. Body 6. mcardles disease is a defect in the phosphofructokinase enzyme ofglycolysis. These individuals have a difficult time with exercise http://www.chem.umd.edu/biochem/jollie/462/exams/sp99fp6.htm

McArdles disease is a defect in the phosphofructokinase enzyme of glycolysis. These individuals have a difficult time with exercise even slight amounts of exertion cause muscle cramping. Why is this the case? Further they have very large deposits of glycogen in their livers and eventually liver necrosis and death. Why does a deficiency in this glycolytic enzyme effect glycogen amounts in the liver?

32. "Tribunal Removing Mobility Award" Three weeks before hearing her Mobility car had arrived. She has arare illness mcardles disease. She has had Mob for 11 years. http://www.rightsnet.org.uk/forum/disability/846.html

"Tribunal removing mobility award" Incapacity / Disability Forum Type: Protected Moderator: LASA Time Zone: GMT Printer Friendly Format Original Message "Tribunal removing mobility award" Posted by pern of Flintshire County Council WRU on 25-Nov-02 at 11:28 AM (GMT) A client had indefinate award of Mob. Appeal due to no care being awarded. Tribunal awarded LR Care and removed Mob. Three weeks before hearing her Mobility car had arrived. She has a rare illness - Mcardles disease. She has had Mob for 11 years. What can we do whilst awiting full statement to try to keep the car and maintain the award of Mob Table of Contents Motability Agreement jimmckenny of social services dept - kirklees m.c. 27-Nov-02, (1) Messages in this discussion 1 . "Motability Agreement" Posted by jimmckenny of social services dept - kirklees m.c. on 27-Nov-02 at 03:26 PM (GMT) I don't know of any legal way you can challenge the decision, but until Motability are aware of the decision you've got some time before anything will happen. At that point you could write to them asking them not to bring the agreement to an end. You might get a more positive response if you get their M.P. to write on their behalf. In addition to appealing to the Commissioners have you applied for a supercession. It's likely to be quicker. Jump to Another Forum!

33. CSAHS - CSLS - Handbook Comparison of mcardles' disease and CPT deficiency Split the difference. McARDLE'S disease. CPT II DEFICIENCY http://www.cs.nsw.gov.au/csls/handbook

Back CSAHS Home CSLS Home Contact Us Laboratories: Canterbury Concord RPAH Specialist Clinical Units ... Links CSLS Laboratory Handbook Search Page Search by TEST NAME: Starts with Exact Contains Alphabetical Test Search: A B C D ... Z Search by DISEASE: ... Choose a Disease from the list ... ABETALIPOPROTEINAEMIA ABSCESS ABSCESS BREAST ABSCESS LIVER ACARIASIS ACHONDROPLASIA ACID MALTASE DEFICIENCY ACIDURIA - 3 - METHOXY - 3 - METHYLGLUTARIC ACROMEGALY ACTINOMYCOSIS ACTIVATED PROTEIN C RESISTANCE ADDISONS DISEASE ADENOSINE DEAMINASE DEFICIENCY ADENYLATE DEAMINASE DEFICIENCY ADENYLATE KINASE DEFICIENCY ADRENOCORTICAL HYPERFUNCTION ADRENOCORTICAL INSUFFICIENCY ADRENOLEUCODYSTROPHY AGAMMAGLOBULINAEMIA ALCOHOL ABUSE ALLERGY ALLERGY DUST MITE ALPHA-1-ANTITRYPSIN DEFICIENCY ALZHEIMERS DISEASE AMINOACIDURIAS AMOEBIASIS AMYLOIDOSIS RENAL FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS (ALS) ANAEMIA ANAEMIA HAEMOLYTIC ANAEMIA HEREDITARY ANAEMIA HYPOCHROMIC ANAEMIA IRON DEFICIENCY ANAEMIA MEGALOBLASTIC ANAEMIA OBSCURE ANAEMIA OF CHRONIC DISEASE ANAEMIA PERNICIOUS ANAEMIA SICKLE CELL ANAPHYLAXIS ANGELMAN SYNDROME ANGIODYSPLASIA ANAEMIA ANGIOEDEMA ACQUIRED ANGIOEDEMA HEREDITARY ANGIOSTRONGYLIASIS ANGULAR STOMATITIS ANHYDROTIC ECTODERMAL DYSPLASIA ANKYLOSING SPONDYLITIS ANOREXIA NERVOSA ANTI CHOLINESTERASE EXPOSURE ANTI THROMBIN III DEFICIENCY ANTICARDIOLIPIN SYNDROME ANTIPHOSPHOLIPID SYNDROME AORTIC ANEURYSMS FAMILIAL APLASIAS APLASTIC ANAEMIA APNOEA ASSOCIATED WITH ANAESTHETIC APRT DEFICIENCY ARGININO-SUCCINIC ACID LYASE DEFICIENCY ARGYRIA (SILVER POISONING) ARTHRITIS - POLYARTHRITIS

34. McArdles Sjukdom - Små Och Mindre Kända Handikappgrupper Flodmark B, Ockander L. Misstänk mcardles sjukdom vid muskelsmärta. Läkartidningen1995; 92 20202022. Haller RG. Treatment of McArdle disease. http://www.sos.se/smkh/2003-29-167/2003-29-167.htm

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper McArdles sjukdom Glykogenos typ V Myofosforylasbrist Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Dokumentinformation Dokumentdatum: 2003-02-03 HTML-version:1.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos myofosforylasbrist fosforylas Orsak till sjukdomen/skadan Fosforylas myofosforylas fosfokreatinkinas (CK). Enstaka personer med McArdles sjukdom har endast delvis avsaknad av myofosforylas . Dessa personer kan ha lindrigare symtom. myofosforylas.

35. Pompes Sjukdom - Små Och Mindre Kända Handikappgrupper Särskilt informationsmaterial om mcardles sjukdom finns i Socialstyrelsens kunskapsdatabas GSD(glucogen storage disease) är den engelska beteckningen för http://www.sos.se/smkh/2000-29-116/2000-29-116.htm

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Pompes sjukdom Glykogenos typ II Sur maltasbrist Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Dokumentinformation Dokumentdatum: 2003-02-03 Version:2.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan surt maltas Symtom Diagnostik surt maltas Praktiska tips Resurspersoner Kurser, erfarenhetsutbyte, rekreation International Pompe Association, Internetadress www.worldpompe.org, e-post kevin@worldpompe.org

36. Phosphorylase Deficiency (MPD Or PYGM) (aka McArdle's Disease) | MDA Treatment of McArdle disease 5/01; Running on Empty 'Keeping Up' With MetabolicMyopathies 12/99; mcardles's Gene Therapy Looks Good in Sheep 12/98; Hooked on http://www.mdausa.org/disease/mpd.html

Phosphorylase Deficiency (MPD or PYGM) (Also known as McArdle's Disease) Click for and MDAchats Bookmark this page! It's your source for information and news about MPD and will be updated regularly. Quick Definition: Childhood to adolescence. Muscle cramps usually occurring after exercise. Intense exercise can cause muscle destruction and possible kidney damage. Variable severity and progression. Autosomal recessive. Find Your Local MDA Do you need to find MDA in your city? Enter your Zip code here for where to turn for clinics and medical services; support groups; summer camp; local events and volunteer and fund-raising opportunities close to home. For more articles and references, please use the search feature Basic References Special MPD Materials FAQ's and Simply Stated Articles ... News Releases Basic References Facts About Metabolic Diseases of the Muscle "Ask the Experts" Responses about Other Metabolic Diseases of the Muscle "Ask the Experts" Responses to General Neuromuscular Questions Genetics and Neuromuscular Diseases ... General Interest Publications Special MPD Materials Treatment of McArdle Disease Running on Empty: 'Keeping Up' With Metabolic Myopathies McArdles's Gene Therapy Looks Good in Sheep Hooked on Mitochondria (Mitochondrial/Metabolic Myopathies by Dr. DiMauro)

37. Glycogen Storage Disease American Liver Foundation, Type I Glycogan Storage disease Pamphlet;mcardles Page, Type V information, family page by RSpeary, UK. http://www.kumc.edu/gec/support/glycogen.html

Glycogen Storage disease I (glucose-6-phosphatase deficiency, Von Gierke) II (alpha glucosidase deficiency, Pompe) III (debrancher enzyme deficiency, Cori) IV (brancher enzyme deficiency, Anderson) V (muscle glycogen phosphorylase deficiency, McArdle) VII (muscle phosphofructokinase deficiency, Tauri) VI (liver phosphorylase deficiency, Hers) IX (liver glycogen phosphorylase kinase deficiency) Association for Glycogen Storage (AGSD) PO Box 896 Durant, IA 52747-9769 Phone: 563.785.6038 (also fax) Web site: www.agsdus.org Association for Glycogen Storage Disease (UK) GSDnet (Glycogen storage disease Network), electronic mailing list for families, individuals, and professionals, listserv@maelstrom.stjohns.edu Pompe Disease Page , United Kingdom Association Francophone des Glycogenoses (French Glycogen Storage Disease Association) Rue G. Guynemer 37390 La Membrolle S/Choiselle Tel et Fax: 02.47.87.03.18 E-mail: ahugon@infonie.fr Acid Maltase Deficiency Association (GSD type II) P.O. Box 700248

38. 1300 (known) Metabolic Diseases Von Gierke) + lc Glycogen Storage disease Type 2 (Pompe) Glycogen Storage diseaseType 3 (Forbes) Glycogen Storage disease Type 5 (mcardles) Glycogen Storage http://soundwithvision.com/Home/Projects/Kleine_Kus/1300dis/1300dis.html

1300 (known) Metabolic Diseases (from Research Trust for Metabolic Diseases in Children) The list... Abetalipopprotinaemia Achondroplasia Adenosine Deaminase Deficiency Adrenal Hyperplasia Adrenal Hypoplasia Aicardi-Goutieres Syndrome Alagille Syndrome Alcaptonuria Alpers Disease Alpha One Antitrypsin Deficiency 5 Alpha Reductase Deficiency Alports Syndrome Alstroni s Disease Amyloidosis Androgen Insensitivity Arachidonic Acid, Absence of: Arginase Deficiency Arginosuccinic Aciduria (ASA) Aromatic amino acid decarboxylase deficiency Arterial Calcification of Infancy Occlusive Infantile Arteriopathy Arylsulphatase A Deficiency Aspartyl Glucosaminuria Ataxia Telangiectasia Bartters Syndrome Batten's Disease Berardinelli Lipodystrophy Syndrome Beta Ketothiolase Deficiency 2 Methylacetoacetyl CoA Thiolase Deficiency Beta-Methylcrotonylglycinuria Biliary Hypoplasia Biotin Deficiency CI Esterase Deficiency Carbamyl Phosphate Synthetase Deficiency (CPS) Carbohydrate Deficient Glycoprotein Syndrome Carnitine Deficiency Carnitine Palmitoyltransferase Deficiency Cerebrotendinous Xanthomatosis Chondrodysplasia Punctata Citrullinaemia Cobalamin C/G Deficiency Cockayne Syndrome Crigler Najjar Syndrome type I Cystinosis Cystinuria Cytochrome C Oxidase Deficiency Diabetes Insipidus Dysmyelination Endocardial Fibroelastosis Ethylmalonic Aciduria Ethylmalonic Adipic Aciduria Farbers Disease Fabry's Disease Fanconi's Syndrome Fish Odour Syndrome (Trimethylamineuria)

39. MB ChB III, Neuropathology: Lecture 6 - Non-Neoplastic Neuromuscular Disease glycogen storage diseases Pompe's, mcardles; disordered lipid metabolism - carnitinedeficiency; a component of a more widespread collagen vascular disease eg. http://www.sun.ac.za/anatpath/neuro_path/mbiii6.html

NEUROPATHOLOGY UNIT - UNIVERSITY OF STELLENBOSCH LECTURE 6: NON-NEOPLASTIC NEUROMUSCULAR DISEASE A single motor neurone, its axon and axon branches and the muscle fibres innervated by that axon, is referred to as a motor unit . Neuromuscular disease is disease of the motor unit and is best classified according to which specific component of the motor unit is the initial site of dysfunction. Clinical presentation : The majority of patients suffering from a neuromuscular disease present with weakness and/or wasting of muscle. The first question to be answered is - "is the disease process of the muscle cell, or of its innervation". The answer provides the basis for the separation of neuromuscular disease into 2 main groups: 1. NEUROPATHIC - in which a muscle biopsy will show evidence of neurogenic atrophy ie. the pathological change in muscle resulting from denervation. 2. MYOPATHIC (myopathy) - an intrinsic disorder of the muscle fibre. This group may be further divided into primary and secondary. DISORDERS OF THE MOTOR NEURON (causing neurogenic atrophy) There are many disorders involving denervation of muscle. These may be acquired and nonprogressive (eg. polio) or inherited and progressive (eg. SMA). If uncomplicated, a characteristic histopathological picture develops (seen on muscle biopsy). However, although the picture is diagnostic of neurogenic atrophy, the exact site of the lesion can not be stated and a good clinicopathologic approach, in classifying and locating the site of the disease process, is required. Examples of such diseases include:

40. Resourses disease Glycogen Storage disease Glycogen Storage disease 1, from OMIM GlycogenStorage disease, Types I-VIII mcardles Syndrome, Glycogen Storage disease V http://sargon.mmu.ac.uk/RESORCE7.HTM

Health and Disability-Related Web Sites Page 7 of 26 updated 19/8/97 GASTRO-ESOPHAGEAL REFLUX DISEASE............................ Barrett's Esophagus Diagnosing and treating GERD Endoscopy in the management of esophagitis Esophageal dilations ... Managing Acid-Reflux disorders,( good info on meds also) GASTROENTEROLOGY.......................... American Gastroenterological Assoc. Columbia University Gastroenterology page Digestive diseases, from PharmInfo, many many links Digestive disease center home page ... Rotavirus GASTROSTOMY FEEDING............... Early enteral feeding, Enteral nutrition in the early postop period: aspiration rates from nasoenteric feeding tubes Feeding and Nutrition in preemies, TPN, ng, and nj ... Role of percutaneous endoscopic gastrostomy GAUCHER'S DISEASE............... Gaucher's Associations around the world Gaucher's Association in the UK, with several links Gaucher's disease, an inborn metabolic disorder Gaucher's disease ... Gaucher's treatment center at MGH GENERAL PEDIATRICS..................... KidsHome, pictures by ill children

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 78    Back | 1  | 2  | 3  | 4  | Next 20