Back to Search
Start Over
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene
- Source :
-
Neuromuscular Disorders . Nov2009, Vol. 19 Issue 11, p776-778. 3p. - Publication Year :
- 2009
-
Abstract
- Abstract: Phosphoglycerate mutase (PGAM) deficiency causes a rare metabolic myopathy characterized by exercise-related myalgia and myoglobinuria. This disorder was described in 13 patients and five different mutations in the PGAM-M gene were identified. We report on a new patient with an unusual clinical presentation. As a youth, he participated in different sports without complaining of muscular symptoms, but at 44years of age, after a brief, intense effort, he experienced lightheadedness without fainting. Serum CK was elevated and the ischemic exercise test showed a pathological lactate response. Muscle biopsy showed only mild abnormalities, but biochemical study revealed a defect of PGAM and genetic analysis showed two different mutations in the PGAM-M gene. Our case expands the clinical spectrum of PGAM deficiency and suggests that the frequency of this metabolic myopathy may be underestimated. [Copyright &y& Elsevier]
Details
- Language :
- English
- ISSN :
- 09608966
- Volume :
- 19
- Issue :
- 11
- Database :
- Academic Search Index
- Journal :
- Neuromuscular Disorders
- Publication Type :
- Academic Journal
- Accession number :
- 44828070
- Full Text :
- https://doi.org/10.1016/j.nmd.2009.08.007