A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A

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Kousuke Baba1, Tokiko Fukuda2, Mitsuru Furuta1

  • 1Department of Neurology, Osaka University Graduate School of Medicine, Japan.

Internal Medicine (Tokyo, Japan)
|May 8, 2022
PubMed

Insights

Phosphoglycerate kinase (PGK) deficiency, a rare X-linked disorder, can present with mild symptoms like hemolytic anemia and rhabdomyolysis. A novel PGK1 gene mutation highlights the condition's varied presentation.

Area of Science:

  • Biochemistry
  • Genetics
  • Clinical Medicine

Background:

  • Phosphoglycerate kinase (PGK) deficiency is an X-linked genetic disorder.
  • It typically presents with hemolytic anemia, myopathy, and neurological symptoms.
  • The severity and specific manifestations can vary significantly among affected individuals.

Approach:

  • Case report of a Japanese man with rhabdomyolysis and mild hemolytic anemia.
  • Genetic analysis identified a novel missense mutation (p.S62N) in the PGK1 gene.
  • Enzymatic activity assay confirmed significantly reduced PGK activity.
  • Literature review to compare the patient's phenotype with previously reported cases.

Key Points:

  • The patient exhibited rhabdomyolysis despite strenuous physical training, suggesting a link between exertion and symptom manifestation.
  • A novel mutation in the PGK1 gene was identified, contributing to reduced PGK enzyme activity.
  • The patient presented with a mild phenotype, combining hemolytic anemia and myopathy, which is rare.

Conclusions:

  • This case highlights the complex pathophysiology of PGK deficiency.
  • The mild phenotype suggests that PGK deficiency may be underdiagnosed, especially in individuals with less severe symptoms.
  • Dietary modifications and exercise management may be beneficial for patients with PGK deficiency.
Keywords:
PGK Osakadietary intakeglycogen storage diseasehemolysisischemic exercise testmyopathy

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