Glycogen storage disease due to muscle phosphofructokinase deficiency

Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.



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Narrow down the case reports



Total: 15 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(35.3%)		 18073478
 Progressive mitral valve thickening and progressive muscle cramps as manifestations of glycogenosis VII (Tarui's Disease).
Finsterer J, Stollberger C.
Cardiology. 2008;110(4):238-40.
Facial palsy
Disease Progression Echocardiography, Transesophageal Females Glycogen Storage Disease Type VII Homo sapiens Mitral Valve Mitral Valve Insufficiency Muscle Cramp
1
(35.3%)		 12597313
 Neurologic and cardiac progression of glycogenosis type VII over an eight-year period.
Finsterer J, Stollberger C, Kopsa W.
South Med J. 2002;95(12):1436-40.
Facial palsy
Angina Pectoris Disease Progression Electrocardiography Epilepsy, Partial, Sensory Females Glycogen Storage Disease Type VII Heart Diseases Homo sapiens Muscle Cramp Time Factors Vision Disorders
3
(21.2%)		 7794557
 Fetal akinesia sequence caused by glycogenosis type VII.
Moerman P, Lammens M, Fryns JP, Lemmens F, Lauweryns JM.
Genet Couns. 1995;6(1):15-20.
Fetal akinesia sequence Multiple joint contractures
6-Phosphofructokinase Brain Contracture Fatal Outcome Gliosis Glycogen Storage Disease Type VII Homo sapiens Infant, Newborn Joints Male Muscle Tissue Preterm Infant
4
(17.5%)		 27142047
 Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.
Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS.
JIMD Rep. 2017;31:79-83.
Cardiomyopathy Proximal muscle weakness
GAA PRKAG2
c|DEL|525|T;RS#:386834235 c|SUB|C|309|G p|FS|E|176|R|45;RS#:386834235 rs386834235
4
(17.5%)		 10809925
 Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms.
Aasly J, van Diggelen OP, Boer AM, Bronstad G.
Eur J Neurol. 2000;7(1):111-3.
Myoglobinuria Rhabdomyolysis
Adult Differential Diagnosis Exercise Tolerance Glycogen Storage Disease Type V Glycogen Storage Disease Type VII Homo sapiens Inborn Errors of Metabolism Male Myoglobinuria Nuclear Family
4
(17.5%)		 8880699
 Muscle phosphofructokinase deficiency in two generations.
Vorgerd M, Karitzky J, Ristow M, Van Schaftingen E, Tegenthoff M, Jerusalem F, Malin JP.
J Neurol Sci. 1996;141(1-2):95-9.
Myopathy
6-Phosphofructokinase Adult Biopsy Erythrocytes Exons Females Glycogen Storage Disease Type VII Homo sapiens Introns Male Middle Aged Point Mutation
4
(17.5%)		 8659544
 Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.
Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N.
Am J Hum Genet. 1996;59(1):59-65.
Myopathy
PFKM
c|SUB|G|1127|A;RS#:187131358 rs187131358
6-Phosphofructokinase Adult Alternative Splicing Base Sequence DNA Primers Exons Females Glycogen Storage Disease Type VII Heterozygote Homo sapiens Introns Isoenzymes Male Middle Aged Molecular Sequence Data Muscle Tissue Mutation Polymerase Chain Reaction RNA, Messenger Sweden
4
(17.5%)		 8444874
 A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).
Raben N, Sherman J, Miller F, Mena H, Plotz P.
J Biol Chem. 1993;268(7):4963-7.
Myopathy
PFKM
rs202143236
6-Phosphofructokinase Base Sequence Cell Line, Transformed DNA DNA Mutational Analysis Exons Females Glycogen Storage Disease Type VII Homo sapiens Jews Male Middle Aged Molecular Sequence Data Mutation Polymerase Chain Reaction RNA Splicing RNA, Messenger Sequence Deletion
4
(17.5%)		 7479776
 Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.
Vasconcelos O, Sivakumar K, Dalakas MC, Quezado M, Nagle J, Leon-Monzon M, Dubnick M, Gajdusek DC, Goldfarb LG.
Proc Natl Acad Sci U S A. 1995;92(22):10322-6.
Myopathy
PFKM
rs121918195
6-Phosphofructokinase Amino Acid Sequence Base Sequence DNA Primers Exons Females Genotype Glycogen Storage Disease Type VII Homo sapiens Introns Jews Macromolecular Substances Male Middle Aged Molecular Sequence Data Mutation Point Mutation Polymerase Chain Reaction Sequence Deletion
4
(17.5%)		 6444532
 The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy.
Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S.
Blood. 1980;55(4):629-35.
Muscle weakness
PFKFB3
6-Phosphofructokinase Adult Blood Platelets Diphosphoglyceric Acids Erythrocytes Homo sapiens Isoenzymes Leukocytes Liver Male Myoglobinuria
        

Phenotype(s) retrieved from Orphanet

    Total: 6

HPO ID Term Frequency
HP:0001903 Anemia Very frequent (99-80%)
HP:0002486 Myotonia Very frequent (99-80%)
HP:0009051 Increased muscle glycogen content Very frequent (99-80%)
HP:0001324 Muscle weakness Frequent (79-30%)
HP:0002149 Hyperuricemia Frequent (79-30%)
HP:0003202 Skeletal muscle atrophy Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0003198 Myopathy 7
HP:0001638 Cardiomyopathy 1
HP:0001989 Fetal akinesia sequence 1
HP:0008200 Primary hyperparathyroidism 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PFKM phosphofructokinase, muscle 5213