Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene.
Phosphoglycerate mutase (PGAM) deficiency causes a rare metabolic myopathy characterized by exercise-related myalgia and myoglobinuria. This disorder was described in 13 patients and five different mutations in the PGAM-M gene were identified. We report on a new patient with an unusual clinical presentation. As a youth, he participated in different sports without complaining of muscular symptoms, but at 44 years of age, after a brief, intense effort, he experienced lightheadedness without fainting. Serum CK was elevated and the ischemic exercise test showed a pathological lactate response. Muscle biopsy showed only mild abnormalities, but biochemical study revealed a defect of PGAM and genetic analysis showed two different mutations in the PGAM-M gene. Our case expands the clinical spectrum of PGAM deficiency and suggests that the frequency of this metabolic myopathy may be underestimated.
Department of Neurological Sciences and Vision, Section of Neurology, University of Verona, 37134 Verona, Italy. paola.tonin@azosp.vr.it
Paola
P
Tonin
Claudio
C
Bruno
Denise
D
Cassandrini
Chiara
C
Savio
Eleonora
E
Tavazzi
Giuliano
G
Tomelleri
Giovanni
G
Piccolo
D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010736:Phosphoglycerate Mutase / Q000172:deficiency* / Q000235:genetics*; D055815:Young Adult
D010736:Phosphoglycerate Mutase