Regular ArticleRetarded and Aberrant Splicings Caused by Single Exon Mutation in a Phosphoglycerate Kinase Variant
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Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency
2016, Neuromuscular DisordersCitation Excerpt :The patient with PGK Fukuroi, in addition, displayed intellectual deficiency and abnormal EEG. In both cases qualitative changes to muscle fiber were minimal and no accumulation of glycogen was observed [6,7]. A phenotype similar to that of our patients (myopathy, mental retardation and no hemolysis) has also been described in the patient with PGK Hamamatsu (c.758T > C, p.(Ile253Thr)) [8,9].
Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations
2009, Neuromuscular DisordersCitation Excerpt :The most common association, seen in 11 of 33 reported patients (34%) is hemolytic anemia and CNS involvement (seizures, mental retardation, strokes) [7–17]. A careful review of the literature, including the present patient, shows that the purely myopathic presentation is a close second (9 of 33 patients, 27%) [8,18–26]. Isolated blood dyscrasia was reported in 6 patients (18%) [27–31], the association of myopathy and CNS dysfunction in 4 patients (12%) [32–35], the association of anemia and myopathy only in one patient (3%) [36], while all three tissues were involved in 2 patients (6%) [6].
Disorders of carbohydrate metabolism
2007, Handbook of Clinical NeurologyCitation Excerpt :Only one patient had myopathy and hemolytic anemia, while two patients showed involvement of all three tissues. The seven myopathic cases were clinically indistinguishable from McArdle disease, but muscle biopsies showed less severe glycogen accumulation (DiMauro et al., 1983; Tonin et al., 1992; Cohen‐Solal et al., 1994; Ookawara et al., 1996; Schroder et al., 1996; Aasly et al., 2000; Hamano et al., 2000). Mutations in PGK1 were identified in four of the seven myopathic patients.
The energy-less red blood cell is lost: Erythrocyte enzyme abnormalities of glycolysis
2005, BloodCitation Excerpt :Fourteen different mutations in PGK1 have been described in association with PGK deficiency.40 Most of these mutations are missense mutants of which one, in addition to encoding a nonconserved Glu252Ala substitution, resulted in aberrant splicing with a consequent 90% reduction in mRNA levels.69 Pyruvate kinase catalyzes the irreversible phosphoryl group transfer from phosphoenolpyruvate to ADP, yielding pyruvate and the second molecule of ATP in glycolysis (Figure 1).
Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: Phosphoglycerate kinase and phosphofructokinase deficiency
2000, Best Practice and Research: Clinical HaematologyGlycogen storage myopathies
2000, Neurologic ClinicsCitation Excerpt :The gene spans 23 kbp and contains 10 introns.67 In at least 12 patients with PGK deficiency the molecular defects were defined; 5 had myopathy.22, 38, 84, 106, 118 All mutations were different and were missense, except for two splice junction mutations and a single-codon deletion.