Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama
UMass Chan Affiliations
Department of NeurologyDocument Type
Case ReportPublication Date
2013-01-01Keywords
AdultHumans
Male
Muscle Cramp
Muscle Weakness
Muscle, Skeletal
Phosphoglycerate Mutase
Musculoskeletal Diseases
Nervous System Diseases
Neurology
Metadata
Show full item recordAbstract
INTRODUCTION: Phosphoglycerate mutase deficiency (PGAM) is a rare metabolic myopathy that results in terminal block in glycogenolysis. Clinically, patients with PGAM deficiency are asymptomatic, except when they engage in brief, strenuous efforts, which may trigger myalgias, cramps, muscle necrosis, and myoglobinuria. An unusual pathologic feature of PGAM deficiency is the association with tubular aggregates. METHODS: We report an African-American patient from Panama with partial deficiency of PGAM who presented with asymptomatic elevation of creatine kinase levels and tubular aggregates on muscle biopsy. RESULTS: Muscle biopsies showed subsarcolemmal and sarcolemmal tubular aggregates in type 2 fibers. Muscle PGAM enzymatic activity was decreased and gene sequencing revealed a heterozygous mutation in codon 78 of exon 1 of the PGAM2 gene, which is located on the short arm of chromosome 7. CONCLUSIONS: PGAM deficiency has been reported in 14 patients, 9 of whom were of African-American ethnicity, and in 5 (36%) tubular aggregates were seen on muscle biopsy. Contrary to previously reported cases, our patient was initially asymptomatic. This further expands the PGAM deficiency phenotype.Source
Muscle Nerve. 2013 Jan;47(1):138-40. doi: 10.1002/mus.23527. Epub 2012 Nov 21. Link to article on publisher's site
DOI
10.1002/mus.23527Permanent Link to this Item
http://hdl.handle.net/20.500.14038/30003PubMed ID
23169535Related Resources
ae974a485f413a2113503eed53cd6c53
10.1002/mus.23527