Clinical description Patients usually present in early childhood with hepatomegaly, growth retardation, and mild delay in motor development. Fast-induced hypoglycemia and hyperlipidemia are variable and, if present, are generally mild. [orpha.net]

However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. [books.google.com]

• Falling

  The clinical manifestations fall into two groups, those associated with abnormalities of liver function and those involving abnormalities of muscle function. [britannica.com]

  However one must avoid cooked cornstarch as it leads to sudden rise in blood sugar level followed by rapid fall. Medium chain triglycerides (coconut oil, pure ghee, butter) in type I High protein diet in type III GSD Continuous night-time feeding. [childrenliverindia.org]

  Because blood glucose concentrations fall rapidly, this test should only be performed with secure intravenous access and with frequent clinical and biochemical monitoring. [clinicaladvisor.com]

• Splenomegaly

  Hepatomegaly is seen in all except: Type 0 (Glycogen synthase deficiency) Type IV or Anderson’s disease (Hepatomegaly may be absent and death is early, i.e. in 2 years due to early cirrhosis) Hepatomegaly with splenomegaly and other generalized signs [epomedicine.com]

  Early infancy; rarely, the neonatal period, late childhood, or adulthood (manifesting as a variant nonprogressive or a neuromuscular form) Clinical features: Hepatomegaly with progressive cirrhosis and hypoglycemia, esophageal varices, and ascites; splenomegaly [merckmanuals.com]

  Splenomegaly, liver cirrhosis, doll facies, osteoporosis, neurologic disease, elevated serum lactate, metabolic acidosis and renal tubular acidosis have been described very rarely. [wjgnet.com]

  Deficiency Cardinal Clinical Features Distinctive Features Type 0 Glycogen synthase Fasting hypoglycemia and ketosis No hepatomegaly; postprandial hyperglycemia and hyperlactatemia Type IA Glucose-6-phosphatase Severe hypoglycemia; hepatomegaly; No splenomegaly [clinicaladvisor.com]

• Cardiomegaly

  Most patients experience muscle symptoms such as weakness and cramps, although certain GSDs manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly. [humpath.com]

  Type II (Lysosomal α1->4 and α1->6 Glucosidase deficiency)- Pompes disease It affects predominantly the heart and skeletal muscle, producing muscle weakness and cardiomegaly. Liver function is normal and patients do not have hypoglycemia. [edusanjalbiochemist.blogspot.com]

  […] disease von Gierke's disease ICD-9-CM Volume 2 Index entries containing back-references to 271.0 : Aglycogenosis 271.0 Amylopectinosis (brancher enzyme deficiency) 271.0 Andersen's glycogen storage disease 271.0 Cardiomegalia glycogenica diffusa 271.0 Cardiomegaly [icd9data.com]

  […] modification Some mutations prevent protein secretion Clinical features General Several syndromes: Vary with age of onset Intrafamilial features: Homogeneous Infant onset: Multisystem; Severe Onset Age: < 6 months Hypotonia Systemic Cardiac (> 90%) Cardiomegaly [neuromuscular.wustl.edu]

  However, common clinical manifestations of various glycogen storage diseases include hypoglycemia, hypotonia, muscle weakness, hepatomegaly, cardiomegaly, elevated creatine kinase, hyperlipidemia, myoglobinuria, and elevated liver aminotransferases. [wikidoc.org]

• Heart Disease

  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]

  […] deficiency Type IX - liver glycogen phosphorylase kinase deficiency Mitochondrial myopathies Just as some diseases are named for the part of the body they affect (like heart disease), mitochondrial diseases are so named because they affect a specific [mda.org.nz]

• Muscle Hypotonia

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

  […] cramps, rhabdomyolysis, hemolysis Treatment: Nonspecific, avoidance of excessive exercise GSD VIII/IX (306000, 172490, 604549, 311870) — Onset: Heterogeneous Clinical features: Heterogeneous; hepatomegaly, growth retardation, muscle hypotonia, hypercholesterolemia [merckmanuals.com]

• Fracture

  […] blood sugar with few hours of fasting Impaired growth and delayed puberty Increased mouth ulcers and infections Large and fatty liver and kidneys High levels of lactate, fats, and uric acid in the blood Osteoporosis (weak bones with increase risk of fractures [childrenliverindia.org]

  Generalized osteopenia develops early and may lead to fractures. Hypophosphatemic rickets and osteoporosis later in life are constant features. [wjgnet.com]

• Leg Cramp

  Taking a warm bath before bedtime may increase circulation to the legs and reduce the incidence of nighttime leg cramps. Key Terms Motor neuron Nerve cells within the central nervous system that carry nerve impulses controlling muscle movement. [the-medical-dictionary.com]

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]

• Fasting Hypoglycemia

  PCK1 (20q13.31)* Onset: Childhood Clinical features: Failure to thrive, hypotonia, hepatomegaly, lactic acidosis, hypoglycemia Treatment: Avoidance of fasting, uncooked cornstarch *Gene has been identified, and molecular basis has been elucidated. [merckmanuals.com]

  Differentiating patients with GSD type III from those with GSD type I solely on the basis of physical findings is not easy, but the hepatomegaly, increased liver glycogen content, fasting hypoglycemia, and muscle weakness are consistent with Cori disease [usmle.biochemistryformedics.com]

  The clinical manifestation of GSD IX stemming from PHKA2 mutation is characterized by childhood onset of hepatomegaly, growth retardation, fasting ketosis, and fasting hypoglycemia [ 3 ]. [bmcmedgenet.biomedcentral.com]

  As a consequence, patients with GSD type I have fasting hypoglycemia. Despite the metabolic block, the endogenous glucose formation is not fully inhibited. [emedicine.medscape.com]

  Signs of fasting hypoglycemia, ketosis, and poor weight gain, with or without hepatomegaly, can also be seen 1. [path.upmc.edu]

• Hypertriglyceridemia

  Generates excessive ribose-5-phosphate which generates purine nucleotides and they are degraded through the “salvage pathway” into urice acid (hyperuricemia) Increased glycolysis and decreased gluconeogenesis: Increased NADH, NADPH, glycerol and acetylCoA – hypertriglyceridemia [epomedicine.com]

  Most common type of GSD I: Ia ( > 80%) Onset: Before 1 yr Clinical features: Before 1 yr, severe hypoglycemia, lactic acidosis, and hepatomegaly; later, hepatic adenomas, renomegaly with progressive renal insufficiency and hypertension, short stature, hypertriglyceridemia [merckmanuals.com]

  […] metabolic disorder resulting in a mild liver glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia [uniprot.org]

  Severe hypertriglyceridemia unresponsive to optimized dietary management may cause acute pancreatitis; lowering triglyceride concentrations with fenofibrate reduces the risk of pancreatitis. [clinicaladvisor.com]

  The clinical symptoms include hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis (Schimke et al., 1973; Willems et [sandwalk.blogspot.com]

• Triglycerides Elevated

  They often show signs of transaminase and triglyceride elevation, but cirrhosis is very rare 4. [path.upmc.edu]

Management and treatment Most patients require no specific treatment. Hypoglycemia can be controlled by adequate dietary treatment (frequent meals rich in carbohydrates, and supplements of uncooked starch). [orpha.net]

Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments. [books.google.com]

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 [merckmanuals.com]

Prognosis The clinical course is benign with patients reaching their full height and weight during adulthood. Life expectancy is normal. The documents contained in this web site are presented for information purposes only. [orpha.net]

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 - Glycogen storage disease type 6- due to phosphorylation Not supplied. Treatment - Glycogen storage disease type 6- due to phosphorylation Not supplied. Resources - Glycogen storage disease type 6- due to phosphorylation Not supplied. [checkorphan.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. [orpha.net]

Localization myopathic GSD cardiac GSD hepatic GSD Etiology GSD MIM. Deficiency Eponym Gene MIM. [humpath.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]

Development of guidelines to allow for systematic review and microarray studies are needed to better delineate the etiology of the HCC in patients with GSD-III. There are usually periportal fibrosis, and sometimes progress to micronodular cirrhosis. [wjgnet.com]

Summary Epidemiology It is the most common presentation of glycogen storage disease due to PhK deficiency (see this term) with an incidence estimated at less than 1/100,000 births. [orpha.net]

Glycogenosis type 9E - Glycogenosis type IXd - Glycogenosis type IXe Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]

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]

Pathophysiology Metabolic Pathway Metabolic pathways showing defects in various glycogen storage diseases, (ɔ) Image courtesy of WikiDoc.org, by " Dr. [wikidoc.org]

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]