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
Extractions: DANIL HAMMOUDI.MD SINOE MEDICAL ASSOCIATION SURGERY GASTROENTEROLOGY 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
PharmGKB: Glycogen Storage Disease Type V Disease, McArdle; Disease, McArdle s; Glycogenosis 5; Glycogenosis 5s; McArdle Disease;McArdle s Disease; mcardles disease; Muscle Phosphorylase Deficiencies http://www.pharmgkb.org/do/serve?objId=PA444301&objCls=Disease
Nielsen Et Al., 10.1152/ajpendo.00526.2001 on February 14, 2002. Decreased insulin action in skeletal musclefrom patients with mcardles disease. Jakob N Nielsen 1 * , John http://ajpendo.physiology.org/cgi/content/short/00526.2001v1
Curt Rogers Curt Rogers. Disability mcardles disease, My name is Curt Curtis M .Rogers ,butjust Curt does fine. My online name is Gambit. I have mcardles disease . http://www.withoutwheels.org/Profiles/crogers/
Extractions: Curt Rogers Disability: McArdles Disease My name is Curt "Curtis M .Rogers" ,but just Curt does fine. My online name is Gambit. As Paul does, I also play Golf Online and that is how I came across his site here "Without Wheels", and decided to write him and tell him my story. I have "McArdles Disease". Basically McArdles disease is a muscle disease that affects the skeletal muscles, which in turn if over stressed can affect the kidneys. In extreme cases as mine, they can completely shut down the kidneys. Well, I remember the days in elementary school, as far back has kindergarten. My School was about a mile and a half walk from home. Well, that walk would take me almost an hour to do. All through elementary school, I could not walk more then 50 yards without having to stop and sit down and rest. My legs would get this burning in them and they would feel like they weighed more then ten times then they actually were. The muscles wouldn't just move them anymore until I sat and rested. Running was out of the question. I remember them days in elementary school when we had them 40 yard dash's and stuff "Field Day" I think they called it. Well I would get up to them lines to run them dash's just knowing I could beat everyone and I did....for about 10 steps. I would push so hard that my muscles would completely lock up on me, but I would keep pushing "Something that I did not know could really hurt me then" until I made it to that finish line "Last every time I might add". Even the girls would beat me and I'm only talking about a lousy 40 yards. Needless to say, I would collapse just about when I crossed the line. Somehow I would manage to keep my feet under me and try to recover quickly. I hid it very well because it was embarrassing, at least to a 6 to 11 year old it was.
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
Extractions: 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
Research News | MDA Research Research News Researchers Put Dystrophin Minigenes to Ultimate Test6/1/01 VitaminDeficiencies May Worsen SMA5/25/01 Treatment of mcardles disease by Dr http://www.mdausa.org/research/research_news.html
Extractions: Information contained in "Ask the Experts" is for informational and educational purposes only. Such information is not intended to replace, and should not be interpreted or relied upon as, professional advice, whether medical or otherwise. I have read the complete MDA Ask the Experts' , understand and agree to its terms. Summary of Previous Responses: OTHER METABOLIC DISEASES OF THE MUSCLE Last Updated 11/01 Approximate date of response given after each "SUBJ" below. SUBJ (11/01): SEEKING EXPERIMENTAL TREATMENT FOR MCARDLE DISEASE I am 33 years old and at age 20 was diagnosed with McArdle disease (phosphorylase deficiency, MPD or PYGM). After many years of hospital stays, misdiagnoses and needles, I find that things are getting worse. I live with pain every day. Sometimes I think the muscle that is contracting is going to break my bones. I do not take any kind of medication nor pain pills. I never have. I have learned to block the pain out. It is now an emotion to me that I can shut out. Nonetheless, nothing helps me to walk or work when I need to. I am willing to be involved in any experimental work being done. Any side effects that may occur can't be any worse than what I go through on a daily basis. I truly believe I can help. I have pushed this disease to the limit. I have found foods that make the sick feeling go away during an episode of myoglobinuria. I have found myself getting third and fourth winds instead of just a second wind. Sometimes I pay dearly for my personal experiments but I can't just sit back and wait. I read about tests being performed sheep and that these tests are not working. I would like to volunteer for any test. I say let's leave the sheep alone and cut to the chase. I am ready to be the sheep.
New Alabama Chapter It was then that I was diagnosed with Muscular Dystrophy a veryrare form called mcardles disease (phosphorylase deficiency). http://www.vhl.org/newsletter/vhl2001/01coalab.htm
Extractions: to improve diagnosis, treatment, quality of life for people affected by von Hippel-Lindau disease. Linda D. is our new chapter chairperson for Alabama. She shares her story, and her goals for the chapter. I am 48 years of age, one of seven children, with me being number seven and twin to number six. There are 4 boys and 3 girls in our family. I graduated High School and went into the paramedic program at the University of Alabama, Birmingham, Alabama. I worked for Carraway Hospital in the emergency room at the time and wanted to train for the Life Saver Helicopter that was just being introduced. In my second level of paramedic training I was sent to NIH in Bethesda, Maryland, for evaluation of muscle problems. It was then that I was diagnosed with Muscular Dystrophy a very rare form called McArdles Disease (phosphorylase deficiency). This ended my dream of becoming a flight medic or even a paramedic. Since I could not be a paramedic, I worked as an office manager with several companies, and then started my own cleaning business approximately 8 years ago. I have two children. My son, Patrick, is a Staff Sgt. in the Air Force in Louisiana. My daughter-in-law, Brandy, graduated from the Police Academy in June. My daughter, Candi, lives near me and helps me with my cleaning business. I have two grandsons, Justin (5) and Hunter (1), the joy of my life.
Penn State Faculty Research Expertise Database (FRED) Disease, McArdle, Disease, McArdle s. Glycogenosis 5s, mcardles disease.Muscle Phosphorylase Deficiencies, Phosphorylase Deficiencies, Muscle. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D006012
Personprofil Nielsen, J.Vissing, JFP Wojtaszewski, RG Haller, N.Begum, and EA.Richter Decreasedinsulin action in skeletal muscle from patients with mcardles disease Am J http://www.ifi.ku.dk/ahf/grafisk/ansatte.asp?xsltFile=publikationsliste&i=Pers&I
Extractions: 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.
McMaster University - Department Of Kinesiology ranged from young healthy volunteers to special populations including neuromusculardisease patients (eg, myoadenlyate deaminase deficiency, mcardles disease). http://www.mcmaster.ca/kinesiology/faculty/gibala.cfm
Paediatrics Child Health A Functional 12 Minute Walking Assessment for mcardles disease using Ratings of PerceivedPain and Heart Rate , 5th International Congress of the World Muscle http://www.res.bham.ac.uk/publications/researchpubs/2000 data/PAEDIATI.HTM
Extractions: Paediatrics and Child Health The central theme of research in the department is to address questions of fundamental clinical importance to child health, in collaboration with relevant basic scientists, but without losing the uniqueflavour of paediatrics. Several new, each consistent with this theme have recently broadened the portfolio of research within the department. Clinical Chemistry Major areas of research continue to be in neonatalscreeningand inherited metabolic disorders. Major projects are: * Investigation of methods to screen for live dysfunction in neonates using dried blood spots * Genotype/phenotype relationships in tyrosinaemia type 1 * Biochemicaleffects and audit of sodium valproate therapy * Pharmacokinetics of sodium benzoate and sodium phenylbutyrate * Metabolic causes of sudden unexplained death in infancy * Adrenoleucodystrophy - natural history and outcome of treatment with Lorenzo's oil * Application of tandem mass spectrometry to routine diagnostic methods * Liver transplantation for organic acid disorders - biochemical assessment Division of Medical and Molecular Genetics The medical and molecular genetics research group has expanded greatly in the last 4 years. Major research interests are cancer genetics, developmental genetics and paediatric molecular medicine. Current grants held by the group total over 3 million and recent awards include a CRC programme Grant and Wellcome Trust funding to establish a National Autozygosity Mapping Resource (NAMR) (jointly with Trembath Leicester) and Mueller and Woods (Leeds). Research grants from MRC (cooperative, PhD studentship, research fellow and project grants), Cancer Research Campaign, Wellcome Trust, British Heart Foundation and others fund 35 research fellows, research nurses and PhD students. Human genetics research was a major component of the successful Joint Infrastructure Fund bid for 19 million from the Wellcome Trust to build an Institute of Biomedical Research and the researchers from the section will be based in the IBR when it opens in 2002.
Nutritional And Metabolic Diseases mcardles disease (Glycogen Storage Disease, Type V) Lacomis Giuliani U of Pittsburgh (US); About McArdle Disease - PedBase; http://1361928fa6d917772451d278a55a1034.mgmedical.us/1361928fa6d917772451d278a55
Richard Evershed Research and RHT Edwards, Interrelationships between metabolism of glycogen phosphorylaseand pyridoxal phosphate - implications in mcardles disease, In Advances in http://www.chm.bris.ac.uk/org/evershed/research/evershed/richard_e_publications.
Extractions: A) Papers in primary journals [ top 1. E.D. Morgan, R.P. Evershed and R.C. Tyler (1979) Gas chromatographic and structure analysis of volatile pheromons in insects. J. Chromatogr. R.P. Evershed and E.D. Morgan (1980) A chemical study of the Dufours glands of two Attine ants. Insect. Biochem. R.P. Evershed and E.D. Morgan (1981) Chemical investigations of the Dufours gland of Attine ants. Insect. Biochem
