Clinical description The majority of patients present with chronic hemolytic anemia, which may be severe in some cases. [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.de]

Clinical Presentation  Hepatic Presentation  Hepatomegaly, short stature, hypoglycemia, and hyperlipidemia predominate in children, may be indistinguishable from GSD I.  Splenomegaly can be present.  kidneys are not enlarged and renal function is [slideshare.net]

Elsevier Health Sciences, 23 Jul 2014 - Medical - 14 pages Congential myopathies, Muscular dystropies, Glycogen storage diseases of muscle, and Idiopathic and Inflammatory myopathies are presented in this volume of Neurologic Clinics. [books.google.com]

• Anemia

  Only a few patients show all three cardinal features of the disorder (hemolytic anemia, central nervous system abnormalities and myopathy), and several cases of PGK deficiency with myopathy in the absence of hemolytic anemia have been reported. [orpha.net]

  Rare acquired deficiency anemia Rare acquired hemolytic anemia Rare anemia Rare bone tumor Rare coagulation disorder Rare constitutional aplastic anemia Rare constitutional hemolytic anemia Rare constitutional hemolytic anemia due to a red cell membrane [se-atlas.de]

  Mutations in KLF1 are also associated with dyserythropoietic anemia. [umcutrecht.nl]

  Enzymatic defects in these pathways produce hereditary hemolytic anemias due to red blood cell enzymopathies or glycogen storage disease. [bloodgenetics.com]

  […] metabolism except few exceptions Transport proteins like globin or channel related mutations Exception: Copper transporting ATPase in Menke’s disease (X-linked recessive) Mutation in DNA repair genes like Ataxia Telangiectasia, Bloom Syndrome, Fanconi’s Anemia [epomedicine.com]

• Splenectomy

  Splenectomy has been shown to be beneficial in some cases. Prognosis The prognosis is variable, depending on the severity of the anemia and on the presence of the other manifestations. [orpha.net]

  A Splenectomy (surgery to remove the spleen) can reduce the haemolytic anaemia and the need for transfusion. Complications Myoglobinuria (The presence of myoglobin in the urine) from prolonged exercise can produce renal damage. [mda.org.au]

  Surgery Splenectomy can reduce the haemolytic anaemia and the need for transfusion. [ 7 ] Complications Myoglobinuria from prolonged exercise can produce renal damage. [patient.info]

• Swelling

  […] phenotypes Clinical features Onset age Usual: < 15 years; Often early childhood (< 10 years) May be > 50 years Male predominance Exercise intolerance & Fatigue (99%) Especially brief & intense: Moderate exercise usually well tolerated Cramping & Muscle swelling [neuromuscular.wustl.edu]

• Nausea

  Other symptoms are rare and highly variable but may include nausea after exercise, variable degrees of mental retardation, seizures and haemolytic anaemia. [mda.org.au]

  Clinical findings include: Muscle pain and weakness Rust-coloured urine after vigorous exercise due to myoglobinuria Other features are rare and highly variable but may include: Nausea after exercise Variable degrees of mental retardation Seizures Haemolytic [patient.info]

  […] glycolysis Rate limiting step in glycolysis Clinical features: Some features similar to McArdle's Onset: 2nd to 4th decade Exercise intolerance Muscle cramps & Myoglobinuria after vigorous exercise Cramps relieved by rest Pain may be associated with nausea [neuromuscular.wustl.edu]

• Ataxia

  | Spinocerebellar Ataxias | Ataxia, Spinocerebellar | Spinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia 3 | Spinocerebellar Degenerations | Friedreich Ataxia | Ataxia With Oculomotor Apraxia | Multiple System Atrophy [mitoaction.org]

  […] and atrophy, Spinocerebellar ataxia ANO10 Spinocerebellar ataxia APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia COQ2 Coenzyme Q10 deficiency COQ6 Coenzyme Q10 deficiency COQ9 Coenzyme Q10 deficiency ETFA Glutaric aciduria, Multiple [genda.com.ar]

  Most enzymatic defects and inborn errors of metabolism except few exceptions Transport proteins like globin or channel related mutations Exception: Copper transporting ATPase in Menke’s disease (X-linked recessive) Mutation in DNA repair genes like Ataxia [epomedicine.com]

  Intellectual deficit is frequent, and other central nervous system manifestations may be also present including hemiplegic migraines, epilepsy, ataxia and tremor. [orpha.net]

  Home, Search, Index, Links, Pathology, Molecules, Syndromes, Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info GLYCOGEN & GLUCOSE METABOLIC DISORDERS MUSCLE METABOLISM: SUBSTRATES USED BY MUSCLE Rest: Fatty acids Intense exercise, Isometric [neuromuscular.wustl.edu]

• Stroke

  Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies Pyruvate Dehydrogenase Complex Deficiency DiseaseUniversity Hospitals Cleveland Medical Center | Rare Diseases Clinical Research Network | National Institute of Neurological Disorders and Stroke [mitoaction.org]

  Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke. The other form of phosphoglycerate kinase deficiency is often called the myopathic form. [ghr.nlm.nih.gov]

  […] syndrome MeCP2 gene mutation Y-linked Inheritance Swyer syndrome Mutation in SRY gene on Y chromosome Jacob’s syndrome Extra Y i.e XYY Auricular hypertrychosis Mitochondrial Inheritance Leigh disease MELAS (Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like [epomedicine.com]

  […] 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]

• Tremor

  Intellectual deficit is frequent, and other central nervous system manifestations may be also present including hemiplegic migraines, epilepsy, ataxia and tremor. [orpha.net]

  Invernizzi F, Varanese S, Thomas A, Carrara F, Onofrj M, Zeviani M (2008) Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodoparesponsive pseudo-orthostatic tremor and parkinsonism. [link.springer.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]

  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]

• Cerebellar Ataxia

  ataxia and atrophy, Spinocerebellar ataxia ANO10 Spinocerebellar ataxia APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia COQ2 Coenzyme Q10 deficiency COQ6 Coenzyme Q10 deficiency COQ9 Coenzyme Q10 deficiency ETFA Glutaric aciduria [genda.com.ar]

  | Cerebellar Ataxia | Spinocerebellar Ataxias | Ataxia, Spinocerebellar | Spinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia 3 | Spinocerebellar Degenerations | Friedreich Ataxia | Ataxia With Oculomotor Apraxia | [mitoaction.org]

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]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

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]

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.de]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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 The prognosis is variable, depending on the severity of the anemia and on the presence of the other manifestations. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis Severity varies, but myopathic syndrome is usually slowly progressive. [mda.org.au]

Prognosis Severity varies but the myopathic syndrome is usually slowly progressive. [patient.info]

Follow-up, Complications, Prognosis,  Proximal and distal renal tubular as well as glomerular functions are at risk.  Single or multiple liver adenomas may develop in the second or third decade.  Osteopenia.  Anemia.  Polycystic ovaries (PCOs).  [slideshare.net]

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]

Etiology PGK deficiency is caused by mutations in the PGK1 gene (Xq13.3) and around 20 different disease-causing variants have been identified so far in affected families. [orpha.net]

Etiology GSD I is caused by mutations in the G6PC gene resulting in lack of normal activity of the hepatic enzyme complex consisting of glucose-6-phosphate transporter (G6PT) and glucose-6-phosphatase-alpha, which catalyzes the final step in the production [online.epocrates.com]

(April 4, 2013) Etiology and therapeutic approach to elevated lactate. Mayo Clinic Proceedings. Available online at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975915. Accessed on 6/5/18. Lactate Information Sheet for Clinicians. [labtestsonline.it]

Houston Recruiting NCT02023866 Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial Disease Genetically diagnosed mitochondrial disease Raptor Pharma Completed NCT02003170 Etiology [mitoaction.org]

Rev Endocr Metab Disord 4:95–102 PubMed Google Scholar [7] Chou JY, Jun HS, Mansfield BC (2010) Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy. [link.springer.com]

Summary Epidemiology Prevalence is unknown but about 30 unrelated affected families have been reported so far. Clinical description The majority of patients present with chronic hemolytic anemia, which may be severe in some cases. [orpha.net]

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]

Genatlas disease for PGK1 Gene hemolytic anemia Relevant External Links for PGK1 Genetic Association Database (GAD) PGK1 Human Genome Epidemiology (HuGE) Navigator PGK1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PGK1 Sequence of the [genecards.org]

Different mutations of the erythrocyte enzyme PGK1 gene have been identified but the reason for the multifarious clinical manifestations of mutations of the same gene remains unknown. [ 4 ] Epidemiology It is extremely rare. [patient.info]

Approximately 80 mutations in SLC37A4 (G6PT1) have been identified. [2] Pathophysiology GSD I results from lack of activity of the hepatic enzyme complex consisting of glucose-6-phosphate transporter (G6PT) and glucose-6-phosphatase-alpha, which is essential [online.epocrates.com]

Rare hereditary red blood cell enzymopathies associated with hemolytic anemia – pathophysiology, clinical aspects, and laboratory diagnosis. Int J Lab Hematol. 36(3):388-97, 2014. [PubMed: 24750686]· Arya R, Layton DM, Bellingham AJ. [bloodgenetics.com]

Recruitment Status : Recruiting First Posted : December 18, 2015 Last Update Posted : September 1, 2017 Sponsor: Information provided by (Responsible Party): Karen Lindhardt Madsen, Rigshospitalet, Denmark Brief Summary: This study aims to characterize the pathophysiological [clinicaltrials.gov]

Epidemiology Incidence : 1 per 20,000 live births Age of onset : presentation during infancy or childhood Sex : ♂ = ♀ Mode of inheritance : mostly autosomal recessive Pathophysiology Defects in enzymes that are responsible for either glycolysis or glycogenolysis [amboss.com]

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]

[…] to reduce or prevent further deterioration of renal function. [slideshare.net]

Newborn screening enables the early detection of metabolic diseases and early initiation of appropriate dietary restrictions helps prevent disease manifestations. [amboss.com]

For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Please prevent freeze thaw cycles. [mybiosource.com]