Phosphoglycerate mutase deficiency with tubular aggregates in a patient from panama. Issue 1 (21st November 2012)

• Record Type: Journal Article
• Authors: Salameh, Johnny; Goyal, Namita; Choudry, Rabia; Camelo‐Piragua, Sandra; Chong, Peter Siao Tick
• Is Part Of: Muscle & nerve. Volume 47:Issue 1(2013:Jan.)
• Page Start: 138
• Page End: 140
• Publication Date: 2012-11-21
• Subjects: Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.23527
• Languages: English
• ISSNs: 0148-639X

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="abs1-1" sec-type="section"> <title>Introduction:</title> <p>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.</p> </sec> <sec id="abs1-2" sec-type="section"> <title>Methods:</title> <p>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.</p> </sec> <sec id="abs1-3" sec-type="section"> <title>Results:</title> <p>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 <italic>PGAM2</italic> gene, which is located on the short arm of chromosome 7.</p> </sec> <sec id="abs1-4" sec-type="section"> <title>Conclusions:</title> <p>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. Muscle Nerve, 2013</p> </sec> </abstract>