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.
| Original language | English |
|---|---|
| Pages (from-to) | 394-398 |
| Number of pages | 5 |
| Journal | Archives of Neurology |
| Volume | 66 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Mar 2009 |
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ASJC Scopus subject areas
- Clinical Neurology
Cite this
Muscle phosphoglycerate mutase deficiency revisited. / Naini, Ali; Toscano, Antonio; Musumeci, Olimpia; Vissing, John; Akman, Hasan O.; DiMauro, Salvatore.
In: Archives of Neurology, Vol. 66, No. 3, 03.2009, p. 394-398.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Muscle phosphoglycerate mutase deficiency revisited
AU - Naini, Ali
AU - Toscano, Antonio
AU - Musumeci, Olimpia
AU - Vissing, John
AU - Akman, Hasan O.
AU - DiMauro, Salvatore
PY - 2009/3
Y1 - 2009/3
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=62449173194&partnerID=8YFLogxK
U2 - 10.1001/archneurol.2008.584
DO - 10.1001/archneurol.2008.584
M3 - Article
C2 - 19273759
AN - SCOPUS:62449173194
VL - 66
SP - 394
EP - 398
JO - Archives of Neurology
JF - Archives of Neurology
SN - 0003-9942
IS - 3
ER -