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Glycogen Storage Disease due to Phosphoglycerate Kinase 1 Deficiency

GSD due to Phosphoglycerate Kinase 1 Deficiency


Presentation

  • 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]
  • 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]
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]
  • Surgery Splenectomy can reduce the haemolytic anaemia and the need for transfusion. [ 7 ] Complications Myoglobinuria from prolonged exercise can produce renal damage.[patient.info]
  • 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]
Chronic Fatigue Syndrome
  • These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies.[books.google.de]
Nausea
  • 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]
  • 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]
  • […] 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]
Nausea
  • 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]
  • 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]
  • […] 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]
Myalgia
  • Myopathy is a common finding and is characterized by exercise-intolerance, muscle weakness, cramping, myalgia and episodes of myoglobinuria. Rhabdomyolysis has also been reported in a few patients.[orpha.net]
  • This is the first family with more than one affected case of PGK deficiency and exercise-induced stiffness, myalgia and rhabdomyolysis.[biomedsearch.com]
  • II deficiency Most common cause of recurrent myoglobinuria Myoglobinuria occurs after moderate exercise or prolonged fasting Mitochondrial disorders Complex III, or I or IV Premature fatigue or breathlessness after normal activities of daily living Myalgias[neuromuscular.wustl.edu]
  • RM and myalgia may be the dominating symptom in a few cases of LGMD2I [ 82 ].[ojrd.biomedcentral.com]
  • . • Excepting debrancher deficiency (glycogen storage type III, GSD III), defects of glycogen breakdown cause exercise intolerance with premature fatigue, cramps, and myalgia, often culminating in acute muscle breakdown with discoloration of urine (myoglobinuria[medlink.com]
Proximal Muscle Weakness
  • muscle weakness and episodes of myoglobinuria, exercise intolerance and easy fatigue.[patient.info]
  • Some patients may have a purely myopathic syndrome with progressive proximal muscle weakness and episodes of myoglobinuria, exercise intolerance, and easy fatigue.[mda.org.au]
  • Proximal muscle weakness is greater than distal muscle weakness. The pelvic girdle is more involved than the shoulder. Intercostal and diaphragmatic involvement is common.[emedicine.medscape.com]
  • The ancient Indtan physicians were aware of diseases with proximal muscle weakness in spite of muscle enlargement, the finding that is commonly seen in various metabolic myopcithies and muscular dystrophies.[annalsofneurosciences.org]
  • Phenotype A wide range of neuromuscular features may be seen in association with RYR1 mutations, including hypotonia, developmental delay, facial weakness with or without ptosis and extraocular muscle involvement, axial and proximal muscle weakness.[ojrd.biomedcentral.com]
Arthritis
  • Track disease progression and treat patients more effectively with the information on genetic findings, imaging outcomes, cell and biologic therapies, rheumatoid arthritis, and SLE.[books.google.de]
  • .  Gouty arthritis.  patients with GSD Ib develop neutropenia.  GSD Ib patients show symptoms of inflammatory bowel disease (IBD). 11.[slideshare.net]
Emotional Lability
  • There can be emotional lability, aphasia with impaired ability to comprehend speech or writing and hemiplegia. Female carriers may have haemolytic anaemia.[patient.info]
  • There can be emotional lability, aphasia with impaired ability to comprehend speech or writing, muscle weakness after exercise or hemiplegia.[mda.org.au]
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]
  • 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]
Aphasia
  • There can be emotional lability, aphasia with impaired ability to comprehend speech or writing and hemiplegia. Female carriers may have haemolytic anaemia.[patient.info]
  • There can be emotional lability, aphasia with impaired ability to comprehend speech or writing, muscle weakness after exercise or hemiplegia.[mda.org.au]
Cerebellar Disease
  • Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified[books.google.de]
Dark Urine
  • Episodes of exercise-induced dark urine and myalgia in LGMD 2I. Acta Neurol Scand. 2012;125(4):285–7. PubMed Google Scholar Ceravolo F, Messina S, Rodolico C, Strisciuglio P, Concolino D.[ojrd.biomedcentral.com]

Workup

  • 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]

Treatment

  • 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]
  • 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]
  • Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions .[patient.info]

Prognosis

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

  • 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 . Accessed on 6/5/18. Lactate Information Sheet for Clinicians. Clinical Excellence Commission. Available online at .[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]

Epidemiology

  • 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]
  • 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]
  • 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]
  • 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]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]

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