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Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

Glycogen Storage Disease X


Presentation

  • We present a family with muscle phosphoglycerate mutase (PGaM) deficiency, mild glycogen storage and some exertional myalgia. Investigations of muscle biopsy tissue showed a residual PGaM activity in muscle due to a small amount of brain isoenzyme.[ncbi.nlm.nih.gov]
  • Special emphasis is placed on acutely presenting disorders and emergency situations. The rationale of the approaches presented in this book are based on extensive, collective clinical experience.[books.google.com]
  • Muscle phosphoglycerate mutase deficiency Myopathy due to phosphoglycerate mutase deficiency Prevalence: Inheritance: - Age of onset: - ICD-10: E74.0 OMIM: 261670 UMLS: C0268149 MeSH: - GARD: 9964 MedDRA: - The documents contained in this web site are presented[orpha.net]
Weakness
  • Phosphoglycerate mutase enzyme deficiency in muscle causes a metabolic myopathy (glycogen storage disease X) characterized by exertional muscle contractures, weakness, hyperCKemia, and myoglobinuria.[ncbi.nlm.nih.gov]
  • Patient 1 was a 58-year-old man who had predominantly distal weakness beginning at age 46 years, but no cramps on exertion. Patient 2 was a 26-year-old man who had had cramps on exertion since age 6, but no muscle weakness.[bio2rdf.org]
  • The limb girdle muscular dystrophy syndromes can be defined by severity, distribution of weakness, age of onset, sex distribution and other characteristics and many of these can be better understood by study of the under lying defect in cell structural[books.google.com]
  • A B Muscle phosphorylase b kinase X-linked or autosomal recessive depending upon the subunit symptoms similar to Type V, but may also have increasing generalized weakness w/age Muscle phosphorylase b kinase Phosphoglycerate kinase Similar to Type V, but[quia.com]
Pain
  • Muscle phosphoglycerate mutase deficiency results in a myopathic condition characterised by repeated cramps, possible myoglobinuria and muscle pain.[ncbi.nlm.nih.gov]
  • Patients: Two unrelated men (21 and 26 years old) with PGAMD who since their teens had experienced muscle cramps, muscle pain, and episodes of myoglobinuria provoked by brief vigorous exercise, 4 patients with McArdle disease (mean SD age, 32 5 years)[utsouthwestern.influuent.utsystem.edu]
  • He first presented at age 43 years with pain and weakness of the quadriceps muscle. Creatine kinase was mildly elevated.[bio2rdf.org]
  • Those with Satoyoshi's disease experience muscle pain and stiffness with exercise. Exercise tolerance is present in childhood with some muscle pain, but the symptoms become more prominent later in life.[euroformhealthcare.biz]
  • Definition A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance.[uniprot.org]
Fatigue
  • Clinical features may include hepatomegaly, hypoglycemia, muscle cramps, exercise intolerance, and progressive fatigue and weakness. Preliminary biochemical testing may be helpful in making a diagnosis.[sjhbangorlab.testcatalog.org]
  • At follow-up, he was a 36-year-old man with exercise-induced cramps, pain, and early fatigue since age 6 years, and occasional pigmenturia after intense exertion.[bio2rdf.org]
  • . - Adult onset: fatigue early in the disease followed by proximal weakness, and eventually RF. RF may the presenting feature in 30% of patients.[rrnursingschool.biz]
  • The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Menkes Disease July 9, 2018 by Peter[checkrare.com]
  • […] dehydrogenase : 11p15 Differential diagnosis of exercise intolerance CPT 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[neuromuscular.wustl.edu]
Italian
  • To describe 2 patients, 1 of Pakistani and 1 of Italian ethnic origin, with typical clinical and biochemical changes of glycogen storage disease type X and novel mutations in the gene encoding the muscle subunit of PGAM (PGAM2).[ncbi.nlm.nih.gov]
  • Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred. Muscle Nerve. 1996 Sep;19(9):1134-7. Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S.[ghr.nlm.nih.gov]
  • GSD VII GSD VII (Tarui's disease) occurs predominantly in males of Ashkenazi Jewish or Italian ancestry. Clinical features are similar to McArdle's although the "second wind" is less common than in McArdle's.[rrnursingschool.biz]
  • .  GSD XIII is still represented by a single patient, a 47-year-old Italian man with adult onset but rapidly progressive exercise intolerance and myalgia, and chronically elevated serum CK 47.[slideshare.net]
  • Spinazzola A, Massa V, Hirano M, Zeviani M (2008) Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians. Neuromuscul Disord 18: 315–318 PubMed Google Scholar 109.[link.springer.com]
Forearm Pain
  • pain and a 69-year-old with persistently increased serum creatine kinase after statin treatment (see {311870.0004}), but no other symptoms.[bio2rdf.org]
Myopathy
  • Homepage Rare diseases Search Search for a rare disease Glycogen storage disease due to phosphoglycerate mutase deficiency Disease definition Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp[orpha.net]
  • Phosphoglycerate mutase enzyme deficiency in muscle causes a metabolic myopathy (glycogen storage disease X) characterized by exertional muscle contractures, weakness, hyperCKemia, and myoglobinuria.[ncbi.nlm.nih.gov]
  • Background: Muscle phosphoglycerate mutase deficiency (PGAMD) is a rare, recessively inherited metabolic myopathy that affects one of the last steps of glycolysis.[utsouthwestern.influuent.utsystem.edu]
  • [pubmed:3083284] Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. [pubmed:15637709] Adult phosphorylase b kinase deficiency.[bio2rdf.org]
Myalgia
  • We present a family with muscle phosphoglycerate mutase (PGaM) deficiency, mild glycogen storage and some exertional myalgia. Investigations of muscle biopsy tissue showed a residual PGaM activity in muscle due to a small amount of brain isoenzyme.[ncbi.nlm.nih.gov]
  • A 52-year-old African-American woman presented with exertional muscle contractures, myalgias, and weakness since childhood including an episode of rhabdomyolysis. Neurologic examination and EMG were normal.[pubfacts.com]
  • Clinically, patients with PGAM deficiency are asymptomatic, except when they engage in brief, strenuous efforts, which may trigger myalgias, cramps, muscle necrosis, and myoglobinuria.[experts.umich.edu]
Muscle Cramp
  • Conclusion: Although the clinical manifestations of PGAMD mimic McArdle disease with respect to the presence of exertional muscle cramps, rhabdomyolysis, and myoglobinuria, this study shows that cycle exercise responses are strikingly different.[utsouthwestern.influuent.utsystem.edu]
  • Clinical features may include hepatomegaly, hypoglycemia, muscle cramps, exercise intolerance, and progressive fatigue and weakness. Preliminary biochemical testing may be helpful in making a diagnosis.[sjhbangorlab.testcatalog.org]
  • He reported progressive exercise intolerance, muscle stiffness on exercise, and nighttime muscle cramps since childhood.[bio2rdf.org]
  • This defect underlies the muscle cramping and myoglobinuria that occur after strenuous exercise in affected individuals.[ghr.nlm.nih.gov]
  • -1 (PFK-1), Tauri's disease Type VII: Most prevalent in Ashkenazi Jews and Japanese Like Type V, but also with hemolytic anemia due to PFK-1 McArdle’s Disease enzyme Muscle Glycogen Phosphorylase Limited ability to perform strenuous exercise, muscle cramping[quia.com]
Muscle Contracture
  • Phosphoglycerate mutase enzyme deficiency in muscle causes a metabolic myopathy (glycogen storage disease X) characterized by exertional muscle contractures, weakness, hyperCKemia, and myoglobinuria.[ncbi.nlm.nih.gov]
  • Muscle contractures do not occur after ischemic exercise. Numerous episodes of supraventricular tachycardia occurred in an infant with Thomson's disease.[euroformhealthcare.biz]
  • Prolonged muscle spasm (muscle contracture) is not uncommon and can lead to RM.[ojrd.biomedcentral.com]
Suggestibility
  • Muscle biopsy revealed subsarcolemmal collections suggestive of tubular aggregates. Phosphoglycerate mutase activity was 8% of the reference value.[ncbi.nlm.nih.gov]
  • Gomori-trichome and NADH showed subsarcolemmal depositions (0.01% of the fibres) suggesting tubular aggregates (Fig. 1 ). PGAM activity in muscle homogenate [ 4 ] was moderately reduced (141 U/g wet weight, normal 332 88).[link.springer.com]
  • There was a normal increase in serum lactate in the forearm ischemic exercise test, suggesting a discrepancy in glycogen breakdown impairment during anaerobic and aerobic exercise in PHK deficiency that may result from different activation pathways for[bio2rdf.org]
  • Frequently, symptoms suggesting polymyositis or late-onset muscular dystrophy cause confusion in the initial clinical diagnosis. Three types of debrancher deficiency syndrome have been identified: infantile, childhood, and adult.[euroformhealthcare.biz]
Paresis
  • Androgen (DHEA) Secretion Deficiency of 3-Beta-hydroxysteroid Dehydrogenase, Type II Deficiency of Factor XIII, A Subunit Dejerine-Sottas Neuropathy Delayed Sleep Phase Syndrome Demyelinating Charcot-Marie-Tooth Disease 4A Axonal Neuropathy with Vocal Cord Paresis[sequencing.com]
  • Fibrosis of Extraocular Muscles Duane Retraction Syndrome Duane Radial Ray Syndrome Mobius Syndrome Brown Syndrome Marcus Gunn Syndrome Strabismus Congenital Horizontal Gaze Palsy Horizontal Gaze Palsy With Progressive Scoliosis Facial Palsy Facial Paresis[mitoaction.org]
Cerebellar Sign
  • Over the subsequent 8 years, he had slowly progressive weakness of the pelvic girdle muscles without pyramidal or cerebellar signs.[bio2rdf.org]

Workup

  • Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping Mass-spectrometry based quantification of biomarkers is a routine step in the diagnostic workup of many diseases at CENTOGENE.[centogene.com]
Liver Biopsy
  • .  Although fibrosis can be detected in liver biopsies, this is apparently non-progressive.  No cardiac or skeletal muscle involvement is seen.  These patients have normal parameters for growth. 27.[slideshare.net]

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]
  • 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]

Prognosis

  • Prognosis is good; adult patients have normal stature and minimal hepatomegaly.[ommbid.mhmedical.com]
  • Despite any of these interventions, the prognosis is guarded for patients with all of the glycogenoses.[euroformhealthcare.biz]
  • 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

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • 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]
  • On the other hand, the late-onset variant of GSD IV (adult polyglucosan body disease APBD) is one of several polyglucosan disorders (including Lafora disease) due to different etiologies.[scienceopen.com]
  • 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]
  • The disorder is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology.[mendelian.co]

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]
  • Data from combined studies has involved 2,000,000 samples from routine analyses and international screening programs of roughly 7,000 patients diagnosed with different LSDs demonstrates our expertise in these diseases including precise epidemiological[centogene.com]
  • Chinnery PF, Johnson MA, Wardell TM et al. (2000) The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48: 188–193 PubMed Google Scholar 18.[link.springer.com]
  • It appears that the general spectrum of myopathies described in the world literature is also seen in India, although the prevalence is difficult to ascertain, as there is very little published epidemiological data.[annalsofneurosciences.org]
Sex distribution
Age distribution

Pathophysiology

  • Understanding of the pathophysiology underlying the metabolic myopathies provides unique insights into the normal regulation of muscle metabolism.[neuromuscular.dk]
  • 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

  • Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice.[books.google.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]
  • […] to reduce or prevent further deterioration of renal function.[slideshare.net]
  • A high-protein diet may also be effective in preventing hypoglycemia as gluconeogenesis is intact in these patients. Currently, there is no effective treatment for the progressive myopathy or cardiomyopathy.[ommbid.mhmedical.com]

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