Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene

Neuromuscul Disord. 2009 Nov;19(11):776-8. doi: 10.1016/j.nmd.2009.08.007. Epub 2009 Sep 23.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • DNA Mutational Analysis / methods
  • Female
  • Humans
  • Male
  • Muscular Diseases / enzymology
  • Muscular Diseases / genetics*
  • Mutation / genetics*
  • Phosphoglycerate Mutase / deficiency*
  • Phosphoglycerate Mutase / genetics*
  • Young Adult

Substances

  • Phosphoglycerate Mutase