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Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama

Johnny Salameh1, Namita Goyal, Rabia Choudry

  • 1Department of Neurology University of Massachusetts Medical Center, 55 Lake Avenue North S5-751, Worcester, Massachusetts 01605, USA. johnnysalameh@hotmail.com

Muscle & Nerve
|November 22, 2012
PubMed
Abstract

Insights

Phosphoglycerate mutase (PGAM) deficiency, a metabolic myopathy, can present asymptomatically. This case highlights tubular aggregates and a novel mutation in a PGAM2 gene variant.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Phosphoglycerate mutase (PGAM) deficiency is a rare metabolic myopathy affecting glycogenolysis.
  • Patients are typically asymptomatic unless engaging in strenuous activity, which can cause muscle pain, necrosis, and myoglobinuria.
  • Tubular aggregates are an unusual pathological finding in PGAM deficiency.

Observation:

  • A case report of an African-American patient from Panama with partial PGAM deficiency.
  • The patient presented with asymptomatic elevation of creatine kinase levels.
  • Muscle biopsy revealed subsarcolemmal and sarcolemmal tubular aggregates in type 2 fibers.

Findings:

  • Decreased muscle PGAM enzymatic activity was confirmed.
  • Gene sequencing identified a heterozygous mutation in codon 78 of the PGAM2 gene on chromosome 7.
  • This expands the known phenotype of PGAM deficiency, as the patient was initially asymptomatic.

Implications:

  • Highlights the variability in clinical presentation of PGAM deficiency.
  • Emphasizes the importance of genetic testing and muscle biopsy in diagnosing metabolic myopathies.
  • Contributes to the understanding of rare genetic disorders affecting muscle metabolism.

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