title: Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency.
abstract: We report two patients in whom phosphoglycerate mutase (PGAM) deficiency was associated with the triad of exercise-induced cramps, recurrent myoglobinuria, and tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels were elevated between attacks of myoglobinuria. Forearm ischemic exercise tests produced subnormal increases of venous lactate. Muscle biopsies showed subsarcolemmal tubular aggregates in type 2 fibers. Muscle PGAM activities were markedly decreased (3% of the normal mean) and molecular genetic studies showed that both patients were homozygous for a described missense mutation (W78X). A review of 15 cases with tubular aggregates in the muscle biopsies from our laboratory and 15 cases with PGAM deficiency described in the literature showed that this clinicopathological triad is highly suggestive of PGAM deficiency.
authors.affiliation: Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA. shinjoh@uab.edu
authors.forename: Shin J
authors.initials: SJ
authors.lastname: Oh
authors.forename: Kyung-Seok
authors.initials: KS
authors.lastname: Park
authors.forename: Hewitt F
authors.initials: HF
authors.lastname: Ryan
authors.forename: Moris J
authors.initials: MJ
authors.lastname: Danon
authors.forename: Jiesheng
authors.initials: J
authors.lastname: Lu
authors.forename: Ali B
authors.initials: AB
authors.lastname: Naini
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000293:Adolescent; D000328:Adult; D001741:Black or African American / Q000235:genetics; D001706:Biopsy; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D005080:Exercise Test; D017079:Exercise Tolerance / Q000235:genetics*; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D007511:Ischemia / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009120:Muscle Cramp / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D020125:Mutation, Missense; D009212:Myoglobinuria / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D010736:Phosphoglycerate Mutase / Q000172:deficiency* / Q000235:genetics; D012519:Sarcoplasmic Reticulum / Q000201:enzymology / Q000473:pathology
chemical_list: D003402:Creatine Kinase; D010736:Phosphoglycerate Mutase