Myopathy and parkinsonism in phosphoglycerate kinase deficiency.
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.
Sotiriou
Evangelia
E
Department of Neurology, Columbia University Medical Center, 3-313 Russ Berrie Medical Science Pavilion, 1150 St. Nicholas Avenue, New York, New York 10032, USA.
Greene
Paul
P
Krishna
Sindu
S
Hirano
Michio
M
DiMauro
Salvatore
S
D000328:Adult; D017668:Age of Onset; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications / Q000201:enzymology / Q000235:genetics; D015984:Causality; D004252:DNA Mutational Analysis; D015971:Gene Expression Regulation, Enzymologic / Q000235:genetics; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008659:Metabolic Diseases / Q000150:complications / Q000201:enzymology* / Q000235:genetics; D018482:Muscle, Skeletal / Q000196:embryology / Q000503:physiopathology; D009135:Muscular Diseases / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009212:Myoglobinuria / Q000201:enzymology / Q000209:etiology / Q000503:physiopathology; D020734:Parkinsonian Disorders / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D010735:Phosphoglycerate Kinase / Q000172:deficiency* / Q000235:genetics
D005819:Genetic Markers; D010735:Phosphoglycerate Kinase