Myopathy and parkinsonism in phosphoglycerate kinase deficiency

Abstract

A 25-year-old man with exertional myoglobinuria had no evidence of hemolytic anemia, but he had severe parkinsonism that was responsive to levodopa. Phosphoglycerate kinase (PGK) activity was markedly decreased in muscle, and molecular analysis of the PGK1 gene identified the p.T378P mutation that was recently reported in a patient with isolated myopathy. This case reinforces the concept that PGK deficiency is a clinically heterogeneous disorder and raises the question of a relationship between PGK deficiency and idiopathic juvenile Parkinson disease.

A novel <i>PGK1</i> mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria

“…In Table 1, previously reported PGK1 mutations are summarized (1)(2)(3). Some patients exhibited symptoms only in the CNS and the muscles, but not in the RBC (24). In particular, a few patients showed neurological symptoms similar to those in the present patient, such as hemiplegic migraines (20,27,28), although the details of the clinical manifestations appear to be different.…”

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: Molecular and functional characterization

“…Only a few patients show all three cardinal features of the disorder and several cases of PGK deficiency with myopathy in the absence of hemolytic anemia have been reported [15][16][17].…”

Metabolic Myopathies

“…All myopathic patients complained of exercise intolerance, with cramps and myoglobinuria. Molecular defects were documented in several recent patients, and one, T378P (PGK Afula), caused the peculiar association of myopathy and severe juvenile Parkinsonism [61,62].…”