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Glycogen Storage Disease due to Muscle Beta-Enolase Deficiency

Enolase Beta Deficiency


Presentation

  • 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]
  • Glycogenosis type 13 Muscle enolase deficiency Muscular enolase deficiency Prevalence: Inheritance: Autosomal recessive Age of onset: Adult ICD-10: E74.0 OMIM: 612932 UMLS: C2752027 MeSH: - GARD: 2125 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • 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]
Death in Infancy
  • The infantile form causes severe myopathy and leads to death in infancy or early childhood.[infogalactic.com]
Myopathy
  • ; Metabolic and mitochondrial myopathies; Sporadic inclusion body myositis; Toxic myopathies; Idiopathic Inflammatory myopathies; Approach to muscle disease.[books.google.com]
  • , all genetic causes of recurrent myoglobinuria. • The differential diagnosis of glycogenoses with weakness includes the muscular dystrophies, congenital myopathies, and other metabolic myopathies. • Depending on the tissue specificity of the isozyme[medlink.com]
  • Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.[195.83.227.65]
  • Myopathic Presentation  Clinical myopathy may not be apparent in infants or children, although some show hypotonia and delayed motor milestones.  Myopathy often appears in adult life, long after liver symptoms have subsided.  Adult-onset myopathies[slideshare.net]
  • It is not clear why de- brancher deficiency (GSD IDT) causes fixed myopathy rather than exercise intolerance, unless this is due to the frequent accompa- nying neuropathy.[archive.org]
Myalgia
  • Search for a rare disease Glycogen storage disease due to muscle beta-enolase deficiency Disease definition Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia[orpha.net]
  • 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]
Dark Urine
  • urine a few hours later.[infogalactic.com]
  • Clinical Vignette A 16-year-old boy presented with severe muscle pain and very dark urine subsequent to outrunning police officers who were concerned about his teenage prank.[clinicalgate.com]
  • 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]

Treatment

  • 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]
  • 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]
  • Dietary Treatment  The goal of treatment is, as far as possible, to prevent hypoglycemia, thus limiting secondary metabolic derangements.  Initially, treatment consisted of frequent carbohydrate- enriched meals during day and night.  In 1974, continuous[slideshare.net]
  • 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.[server1.resourcerepository.org]

Prognosis

  • 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]
  • […] function in some patients Liver glycogen phosphorylase gene: PYGL; AR tissues: liver glycogen levels/ structure: inc amnt; normal structure Clinical Sx: Type VI (Hers Dz) Mild to moderate hypoglycemia, mild ketosis, growth retardation and hepatomeglay; prognosis[quizlet.com]
  • Treatment and Prognosis The treatment of choice for a patient having an acute attack of periodic paralysis is by correction of abnormal potassium levels. Severe hyperkalemia necessitates emergency treatment with intravenous (IV) glucose and insulin.[clinicalgate.com]
  • Chien YH, Lee NC, Chen CA, et al. (2015) Long‐term prognosis of patients with infantile‐onset Pompe disease diagnosed by newborn screening and treated since birth. Journal of Pediatrics 166: 985–991.[els.net]

Etiology

  • On the other hand, the late-onset variant of GSD IV (adult polyglucosan body disease APBD) is one of several polyglucosan disorders (including La- fora disease) due to different etiologies.[archive.org]
  • Diverse etiologies (Figure 1 ) implicated in acute RM share a common final pathway, increased intracellular free ionized calcium, leading to muscle cell death through the activation of a number of detrimental mechanisms such as enzymatic activation and[ojrd.biomedcentral.com]

Epidemiology

  • 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]
  • 12 - Glycogenosis due to aldolase A deficiency - Glycogenosis type 12 Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological[csbg.cnb.csic.es]
  • GSD I is typically treated with frequent small meals of carbohydrates and cornstarch to prevent low blood sugar, while other treatments may include allopurinol and human granulocyte colony stimulating factor. [21] Epidemiology [ edit ] Overall, according[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology In this condition, a deficiency of the M subunit ( PFKM ) of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and rhabdomyocytes (skeletal muscle cells) to use carbohydrates (such as glucose ) for energy[infogalactic.com]
  • […] electron-transferring flavoprotein and CoQ oxidoreductase deficiencies) Lactate dehydrogenase deficiency—Type XI Combination of I to V Neutral lipid storage disease with myopathy; neutral lipid storage disease with ichthyosis Beta enolase deficiency—Type XII Pathophysiology[clinicalgate.com]
  • Seminal research by Carl and Gerty Cori into the pathophysiology of glycogen metabolism opened up scientific universe of hormonal signalling, phosphorylation control and second messengers.[els.net]
  • Pathophysiology Metabolic Pathway Metabolic pathways showing defects in various glycogen storage diseases, (ɔ) Image courtesy of WikiDoc.org, by " Dr.[wikidoc.org]
  • The syndrome of rhabdomyolysis: pathophysiology and diagnosis. Eur J Intern Med. 2007;18(2):90–100. PubMed Google Scholar Jhawar M, George P, Pawar B.[ojrd.biomedcentral.com]

Prevention

  • […] to reduce or prevent further deterioration of renal function.[slideshare.net]
  • These are prevented by avoiding dietary carbohydrate loads. Maintenance therapy with the carbonic anhydrase inhibitor (CAI) acetazolamide is usually indicated to prevent attacks.[clinicalgate.com]
  • […] rhamdomyolysis and myoglobinuria triggered by an illness, w/ fever, exercise, fasting or exposure to cold temps -lipid droplets accumulate in pts muscle tissue and his/her plasma triglycerides and free fatty acids are elevated tx: high carb, low fat diet can prevent[quizlet.com]
  • GSD I is typically treated with frequent small meals of carbohydrates and cornstarch to prevent low blood sugar, while other treatments may include allopurinol and human granulocyte colony stimulating factor. [21] Epidemiology [ edit ] Overall, according[en.wikipedia.org]
  • Inherited defects in proteins which regulate glycogen metabolism, those which enact glycogenolysis and glycogen synthesis cause pathological glycogen accumulation – or prevent its formation.[els.net]

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