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Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

Glycogenosis type IXd


  • A rationalisation of the 1350 boxes used throughout the book gives a simpler and clearer presentation of the various categories.[books.google.com]
  • […] 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 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]
  • The properties of phosphorylase a, phosphorylase b, phosphorylase kinase and phosphorylase phosphatase present in a human haemolysate were investigated.[ncbi.nlm.nih.gov]
  • The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc).[books.google.de]
  • New ‘In Adolescence’ boxes recognise the fact that many chronic disorders begin in childhood and become the responsibility of physicians practising adult medicine.[books.google.com]
  • Regular evaluation by a metabolic physician and a metabolic nutritionist.[ncbi.nlm.nih.gov]
  • Last reviewed March 2018 by EBSCO Medical Review Board Kari Kassir, MD Please be aware that this information is provided to supplement the care provided by your physician.[cancercarewny.com]
  • Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
Joint Stiffness
  • Affected fetuses have a condition called fetal akinesia deformation sequence, which causes a decrease in fetal movement and can lead to joint stiffness (arthrogryposis) after birth.[icdlist.com]
  • A new chapter specifically on Stroke Disease recognises the emergence of Stroke Medicine as a distinct clinical and academic discipline.[books.google.com]
  • Please click the relevant link below or on the side bar for more information on: MELAS - mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes MERRF - myoclonus epilepsy with ragged red fibers MIDD - maternally inherited diabetes and[mda.org.nz]
  • Possible causes include stroke, multiple sclerosis, cerebral palsy, neurodegenerative diseases, trauma, spinal cord injury, and nervous system poisons such as strychnine, tetanus, and certain insecticides.[the-medical-dictionary.com]
  • Long-term complications from high blood sugar can include increased risk of heart attacks, strokes, amputation, and kidney failure. [26] Genetics [ edit ] There is also a strong inheritable genetic connection in type 2 diabetes: having relatives (especially[en.wikibooks.org]
  • […] sinus syndrome Lown IVb ventricular arrhythmia Wolff–Parkinson–White Aneurysm: Cerebral (Basilar or Aortic); Aortic Aorta: Stiff Cerebral atherosclerotic angiopathy Mutations: Ala237Val; Gly293Arg 13 Dolichoectasia: Basilar & Internal carotid arteries Stroke[neuromuscular.wustl.edu]
  • […] 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]
  • Low blood sugar levels which can cause symptoms such as sweating, tremor, drowsiness, confusion and sometimes uncontrollable muscle movements (convulsions). An enlarged liver which a doctor may feel when they examine your child's tummy (abdomen).[patient.info]
  • Biochemistry: Reduced Triosephosphate isomerase activity in many tissues Clinical: Most severe clinical disorder fo fo glycolysis Onset: 2 years Hemolytic anemia: Chronic; Non-spherocytic; Crises Recurrent infections CNS Mental retardation Dystonia Cerebellar Tremor[neuromuscular.wustl.edu]


  • 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]


  • 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]
  • 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]
  • 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]
  • Treatment Early treatment, especially for babies, is key to holding off the damage in the body. Two medications replace the missing protein and help your body process sugar correctly. You take them by injection.[webmd.com]


  • 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]


  • 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]
  • This can be seen from the adoption of the type 2 diabetes epidemiological pattern in those who have moved to a different environment as compared to the same genetic pool who have not.[en.wikibooks.org]
Sex distribution
Age distribution


  • 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]


  • 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]

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