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Muscle phosphoglycerate mutase deficiency revisited.

AbstractBACKGROUND:
Phosphoglycerate mutase (PGAM) deficiency (glycogen storage disease type X) has been reported in 12 patients of whom 9 were African American.
OBJECTIVE:
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).
DESIGN:
Clinical, pathological, biochemical, and molecular analyses.
SETTING:
Tertiary care university hospitals and academic institutions. Patients A 37-year-old Danish man of Pakistani origin who had exercise-related cramps and myoglobinuria and a 65-year-old Italian man who had exercise intolerance and myalgia but no pigmenturia and had undergone long-term statin therapy.
MAIN OUTCOME MEASURES:
Clinical course and biochemical and molecular features.
RESULTS:
Biochemical evidence showed severe isolated PGAM deficiency, and molecular studies revealed 2 novel homozygous mutations, a nonsense mutation and a single nucleotide deletion. Pathological studies of muscle showed mild glycogen accumulation but prominent tubular aggregates in both patients.
CONCLUSIONS:
We found that glycogen storage disease type X is not confined to the African American population, is often associated with sarcoplasmic reticulum (SR) proliferation, and is genetically heterogeneous.
AuthorsAli Naini, Antonio Toscano, Olimpia Musumeci, John Vissing, Hasan O Akman, Salvatore DiMauro
JournalArchives of neurology (Arch Neurol) Vol. 66 Issue 3 Pg. 394-8 (Mar 2009) ISSN: 1538-3687 [Electronic] United States
PMID19273759 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Creatine Kinase
  • Phosphoglycerate Mutase
Topics
  • Adult
  • Aged
  • Creatine Kinase (blood)
  • Glycogen Storage Disease (genetics, metabolism, physiopathology)
  • Humans
  • Italy
  • Male
  • Pakistan
  • Phosphoglycerate Mutase (deficiency, genetics)

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