, Volume 117, Issue 6, pp 723-725
Date: 26 Mar 2009

Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset

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Phosphoglycerate mutase (PGAM) deficiency is a rare glycogen storage disease (glycogenosis type X) due to recessive mutations in the muscle-specific isoform PGAM-M. We present a 67-year-old German patient with exercise-induced cramps and myalgia for 1 year but no attacks of rhabdomyolysis. CK was 2.5-folds increased and forearm exercise test was normal. Sections of the muscle biopsy stained with PAS showed moderate glycogen accumulation. Gomori-trichome and NADH showed subsarcolemmal depositions (0.01% of the fibres) suggesting tubular aggregates (Fig. 1). PGAM activity in muscle homogenate [4] was moderately reduced (141 U/g wet weight, normal 332 ± 88). Deficiencies of alpha-glucosidase, myophosphorylase, CPT and MAD were excluded biochemically. The PGAM-M gene was amplified [5] and directly sequenced. A novel G to A transition at nucleotide position 460, resulting in exchange of amino acid glutamic acid at codon 154 to lysine, was identified in heterozygous state. This was confirmed ...