A rationalisation of the 1350 boxes used throughout the book gives a simpler and clearer presentation of the various categories. [books.google.com]

Patients may present with exercise intolerance with myalgia, cramps, fatigue, and sometimes myoglobinuria. In some cases, patients may present with progressive muscle weakness. Symptoms are usually mild, and myopathy may be asymptomatic. [rarediseases.info.nih.gov]

[…] a) Liver b) Heart c) Skeletal muscle d) Lysosome e) Spleen. 5) Shortly after birth, an infant presents with tremors, irritability and seizures. [namrata.co]

Patients typically present as infants with hepatomegaly, growth retardation, and raised triglycerides, cholesterol, and transaminases. [jmg.bmj.com]

Patients with either phosphorylase or phosphorylase kinase deficiencies present in early childhood with hepatomegaly and growth retardation. Hypoglycemia and hyperlipidemia are variable and, if present, usually mild. [ommbid.mhmedical.com]

• Asymptomatic

  Symptoms are usually mild, and myopathy may be asymptomatic. A neonatal form with generalized muscular hypotonia and respiratory insufficiency has also been described. [rarediseases.info.nih.gov]

  CONCLUSION: Our findings demonstrate that muscle PHK deficiency may present as an almost asymptomatic condition, despite a mild impairment of muscle glycogenolysis, raised CK levels, and glycogen accumulation in muscle. [ncbi.nlm.nih.gov]

  The symptoms of disease in the liver group are similar, ranging from symptomatic hypoglycemia and ketoacidosis to largely asymptomatic enlargement of the liver (hepatomegaly). [britannica.com]

  The discovery of oligosymptomatic and asymptomatic sibs suggested that there are persons with undiagnosed hepatic glycogen synthase deficiency. [sandwalk.blogspot.com]

• Thrombosis

  Clinical Onset age: Childhood Cardiomyopathy (30%): Dilated; Tachycardia Myopathy (50%) Weakness: Some patients Fatigue & Exercise intolerance Rhabdomyolysis (20%) Bifid uvula (85%) Skeletal: Pierre Robin sequence, Cleft palate, Short stature Cerebral thrombosis [neuromuscular.wustl.edu]

• Muscle Hypotonia

  Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2. [icd10data.com]

  hypotonia, hypercholesterolemia Treatment: Nonspecific Type VIII/IXa: X-linked phosphorylase kinase PHKA2 (Xp22)* Type IXb Liver and muscle phosphorylase kinase PHKB (16q12-q13)* Type IXc Liver phosphorylase kinase PHKG2 (16p12.1-p11.2)* Type IXd Muscle [msdmanuals.com]

After a thorough workup, a GSD was suspected, and a muscle biopsy was significant for the accumulation of dextrin, a form of glycogen with branching limited to only a few glucose molecules. [namrata.co]

Clinical Testing and Workup The diagnosis of the liver form of GSD-IX is often first suspected from symptoms, such as hepatomegaly and growth delay, and abnormalities on routine laboratory tests including elevated liver transaminases, and elevations of [rarediseases.org]

His age at first diagnostic workup was 4 years. Of note, most mutations in Korean GSD IX patients were deletion or splicing mutations, except for one known missense mutation of c.884G   A (p.Arg295His) [ 8 ]. [bmcmedgenet.biomedcentral.com]

• Calcium Increased

  Thus, not only does the increased intracellular calcium increase the rate of muscle contraction it increases glycogenolysis which provides the muscle cell with the glucose it needs to oxidize to satisfy the increased ATP it needs for contraction. [themedicalbiochemistrypage.org]

Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici Springer, 08.07.2014 - 867 Seiten This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases [books.google.de]

Prognosis and treatment of glycogen storage diseases vary by type, but treatment typically includes dietary supplementation with cornstarch to provide a sustained source of glucose for the hepatic forms of GSD and exercise avoidance for the muscle forms [msdmanuals.com]

Management and treatment Most patients do not require any specific treatment. Prognosis Prognosis is generally good. Last updated: 5/1/2011 [rarediseases.info.nih.gov]

Treatment Treatment will depend on the type of GSD and the symptoms. Your doctor will develop a plan based on your specific symptoms. Type 0 People with Type 0 need to manage their blood sugar throughout the day. [cancercarewny.com]

Página 414 - Report of the National Cholesterol Education Program (NCEP) Expert Panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel II). ‎ [books.google.es]

Prognosis Prognosis is generally good. Last updated: 5/1/2011 [rarediseases.info.nih.gov]

Prognosis (prediction of future health) is generally considered good for the liver forms of the disease; however, prognosis for the muscle forms is still unknown. [agsdus.org]

Prognosis is good; adult patients have normal stature and minimal hepatomegaly. [ommbid.mhmedical.com]

Natural history studies are necessary to understand completely the long-term course and prognosis of GSD IX. [rarediseases.org]

Newer treatment possibilities provide hope for an improved outlook (prognosis). Most people with a glycogen storage disorder respond well to treatment. [patient.info]

Etiology Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. [rarediseases.info.nih.gov]

In the 2008 Banting Lecture of the American Diabetes Association, DeFronzo enumerates eight main pathophysiological factors in the type 2 diabetic organism Diabetes mellitus with a known etiology, such as secondary to other diseases, known gene defects [en.wikibooks.org]

Singh U, Scheld WM (1996) Infectious etiologies of rhabdomyolysis: three case reports and review. Clin Infect Dis. 22(4):642–9 Google Scholar 86. Singhal PC, Abramovici M, Venkatesan J (1990) Rhabdomyolysis in the hyperosmolal state. [link.springer.com]

Ongoing controversies regarding etiology, diagnosis, treatment In 2002, guidelines from the European Study on Glycogen Storage Disease Type I (ESGSDI) recommended liver transplantation in patients with type I GSD and unresectable hepatocellular adenomas [clinicaladvisor.com]

On the other hand, the late-onset variant of GSD IV (adult polyglucosan body disease APBD) is one of several polyglucosan disorders (including Lafora disease) due to different etiologies. [ncbi.nlm.nih.gov]

Epidemiology The disease is very rare with less than 30 patients reported in the literature. Clinical description The disease starts generally in adolescence or adulthood. [rarediseases.info.nih.gov]

Lamp-2 : Xq24 Phosphorylase (McArdle's), severe phenotype: 11q13 Triosephosphate isomerase : 12p13 Acid Maltase Deficiency (Glycogen storage disease 2 (GSD2); Pompe disease) Acid α-1,4-glucosidase (GAA) ; Chromosome 17q25.3; Recessive Nosology: LGMD 2V Epidemiology [neuromuscular.wustl.edu]

Relevant External Links for PHKB Genetic Association Database (GAD) PHKB Human Genome Epidemiology (HuGE) Navigator PHKB Atlas of Genetics and Cytogenetics in Oncology and Haematology: PHKB No data available for Genatlas for PHKB Gene Phosphorylase-kinase-deficient [genecards.org]

Glycogenosis type 9C - Glycogenosis type IXa - Glycogenosis type IXc - XLG Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]

Pathophysiology [ edit ] The precise mechanisms underlying gestational diabetes remain unknown. The hallmark of GDM is increased insulin resistance. [en.wikibooks.org]

A study of muscle and kidney pathophysiology in three brothers. Dan Med Bull 30(2):112–5 Google Scholar 23. David WS (2000) Myoglobinuria. Neurol Clin 18(1):215–43 Google Scholar 24. [link.springer.com]

A common pathophysiologic feature of glycogenosis types III, V, and VII. New Engl J Med. 1987;317:75–80. [PubMed] [Google Scholar] 48. Agamanolis DP, Askari AD, DiMauro S, et al. [ncbi.nlm.nih.gov]

The Lipid Research Clinics Coronary Primary Prevention Trial Results, II: the relationship of reduction in incidence of coronary heart disease to cholesterol lowering. ‎ [books.google.es]

Avoiding exercising in extreme heat helps prevent heat cramps. Heat cramps can also be avoided by taking salt tablets and water before prolonged exercise in extreme heat. [the-medical-dictionary.com]

Uncooked (raw) cornstarch (1-1.5 grams per kg) administered at bedtime prevents morning hypoglycemia and ketosis. Daytime hypoglycemia tends to be mild and snacks every 2 to 4 hours prevent hypoglycemia. [clinicaladvisor.com]

For some children, eating several small meals rich in sugars and starches every day helps prevent blood sugar levels from dropping. Cornstarch. [childrenliverindia.org]

Prevention There is no way to prevent GSDs. However, early treatment can help control the disease once a person has it. If you have a GSD or a family history of the disorder, you may want to consult a genetic counselor. [cancercarewny.com]