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.
Tonin
Paola
P
Department of Neurological Sciences and Vision, Section of Neurology, University of Verona, 37134 Verona, Italy. paola.tonin@azosp.vr.it
Bruno
Claudio
C
Cassandrini
Denise
D
Savio
Chiara
C
Tavazzi
Eleonora
E
Tomelleri
Giuliano
G
Piccolo
Giovanni
G
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