Muscle phosphoglycerate mutase deficiency revisited.

Abstract

BACKGROUND:

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.

• Authors: Ali Naini, Antonio Toscano, Olimpia Musumeci, John Vissing, Hasan O Akman, Salvatore DiMauro
• Journal: Archives of neurology (Arch Neurol) Vol. 66 Issue 3 Pg. 394-8 (Mar 2009) ISSN: 1538-3687 [Electronic] United States
• PMID: 19273759 (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)