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Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene
- Source :
- Neuromuscular Disorders. 19:776-778
- Publication Year :
- 2009
- Publisher :
- Elsevier BV, 2009.
-
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 44 years 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.
- Subjects :
- Adult
Male
myalgia
medicine.medical_specialty
Pathology
Lightheadedness
Adolescent
DNA Mutational Analysis
Glycogenosis
Metabolic myopathy
Fainting
Biology
Gastroenterology
Phosphoglycerate mutase
Young Adult
Muscular Diseases
Internal medicine
medicine
Humans
Genetics (clinical)
Muscle biopsy
medicine.diagnostic_test
Myoglobinuria
medicine.disease
Phosphoglycerate Mutase Deficiency
Neurology
Mutation
Pediatrics, Perinatology and Child Health
Female
Neurology (clinical)
medicine.symptom
Subjects
Details
- ISSN :
- 09608966
- Volume :
- 19
- Database :
- OpenAIRE
- Journal :
- Neuromuscular Disorders
- Accession number :
- edsair.doi.dedup.....a0c50e84b6e54c02df7d4d32a45f436d