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Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations

Ronen Spiegel1, Estela Area Gomez, Hasan O Akman

  • 1Department of Pediatrics, HaEmek Medical Center, Rappaport School of Medicine, Afula, Israel.

Neuromuscular Disorders : NMD
|January 23, 2009
PubMed

Insights

Phosphoglycerate kinase (PGK) deficiency can cause muscle cramps and myoglobinuria. A novel mutation, T378P, in the PGK1 gene was identified in a patient with isolated myopathy.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Phosphoglycerate kinase (PGK) deficiency is a rare genetic disorder.
  • It typically presents as hereditary non-spherocytic hemolytic anemia, often with neurological complications.
  • Isolated myopathy is a less common manifestation.

Observation:

  • An 18-year-old male presented with muscle cramps and recurrent exertional myoglobinuria.
  • Hemolytic anemia and brain dysfunction were absent.
  • PGK deficiency was confirmed in muscle and erythrocytes.

Findings:

  • A novel mutation, T378P, in the PGK1 gene was identified.
  • This represents the ninth reported case of isolated myopathy due to PGK deficiency.
  • Mutations in myopathic patients appear to cluster in the C-terminal domain of the PGK1 gene.

Implications:

  • The specific mutation T378P may explain the isolated myopathic presentation.
  • Understanding mutation location provides insights into PGK enzyme function and tissue-specific effects.
  • This case expands the clinical spectrum of PGK deficiency and highlights genotype-phenotype correlations.

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