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PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry
OBJECTIVE: To elaborate the diagnostic methods used as “gold standard” in one of the most common glycogen storage diseases (GSDs), Tarui disease (GSDVII). METHODS: Two siblings with disease suggestive of GSD underwent thorough clinical analysis, including muscle biopsy, muscle MRI, exercise tests, l...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821086/ https://www.ncbi.nlm.nih.gov/pubmed/27066546 http://dx.doi.org/10.1212/NXG.0000000000000007 |
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author | Auranen, Mari Palmio, Johanna Ylikallio, Emil Huovinen, Sanna Paetau, Anders Sandell, Satu Haapasalo, Hannu Viitaniemi, Kati Piirilä, Päivi Tyynismaa, Henna Udd, Bjarne |
author_facet | Auranen, Mari Palmio, Johanna Ylikallio, Emil Huovinen, Sanna Paetau, Anders Sandell, Satu Haapasalo, Hannu Viitaniemi, Kati Piirilä, Päivi Tyynismaa, Henna Udd, Bjarne |
author_sort | Auranen, Mari |
collection | PubMed |
description | OBJECTIVE: To elaborate the diagnostic methods used as “gold standard” in one of the most common glycogen storage diseases (GSDs), Tarui disease (GSDVII). METHODS: Two siblings with disease suggestive of GSD underwent thorough clinical analysis, including muscle biopsy, muscle MRI, exercise tests, laboratory examinations, and whole-exome sequencing (WES). RESULTS: Both siblings had juvenile-onset exercise intolerance with cramping and infrequent myoglobinuria. Muscle biopsy showed extralysosomal glycogen accumulation, but because of normal phosphofructokinase histochemistry, GSDVII was thought to be excluded. However, WES revealed a causative homozygous PFKM gene defect, R39Q, in both siblings, establishing the diagnosis of GSDVII, which was confirmed by very low residual phosphofructo-1-kinase (PFK) enzyme activity in biochemical studies. CONCLUSIONS: We suggest that in patients with suspicion of GSD and extralysosomal glycogen accumulation, biochemical activity assay of PFK followed by molecular genetics should be performed even when enzyme histochemistry is normal. |
format | Online Article Text |
id | pubmed-4821086 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Wolters Kluwer |
record_format | MEDLINE/PubMed |
spelling | pubmed-48210862016-04-08 PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry Auranen, Mari Palmio, Johanna Ylikallio, Emil Huovinen, Sanna Paetau, Anders Sandell, Satu Haapasalo, Hannu Viitaniemi, Kati Piirilä, Päivi Tyynismaa, Henna Udd, Bjarne Neurol Genet Article OBJECTIVE: To elaborate the diagnostic methods used as “gold standard” in one of the most common glycogen storage diseases (GSDs), Tarui disease (GSDVII). METHODS: Two siblings with disease suggestive of GSD underwent thorough clinical analysis, including muscle biopsy, muscle MRI, exercise tests, laboratory examinations, and whole-exome sequencing (WES). RESULTS: Both siblings had juvenile-onset exercise intolerance with cramping and infrequent myoglobinuria. Muscle biopsy showed extralysosomal glycogen accumulation, but because of normal phosphofructokinase histochemistry, GSDVII was thought to be excluded. However, WES revealed a causative homozygous PFKM gene defect, R39Q, in both siblings, establishing the diagnosis of GSDVII, which was confirmed by very low residual phosphofructo-1-kinase (PFK) enzyme activity in biochemical studies. CONCLUSIONS: We suggest that in patients with suspicion of GSD and extralysosomal glycogen accumulation, biochemical activity assay of PFK followed by molecular genetics should be performed even when enzyme histochemistry is normal. Wolters Kluwer 2015-06-04 /pmc/articles/PMC4821086/ /pubmed/27066546 http://dx.doi.org/10.1212/NXG.0000000000000007 Text en © 2015 American Academy of Neurology This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially. |
spellingShingle | Article Auranen, Mari Palmio, Johanna Ylikallio, Emil Huovinen, Sanna Paetau, Anders Sandell, Satu Haapasalo, Hannu Viitaniemi, Kati Piirilä, Päivi Tyynismaa, Henna Udd, Bjarne PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry |
title | PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry |
title_full | PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry |
title_fullStr | PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry |
title_full_unstemmed | PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry |
title_short | PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry |
title_sort | pfkm gene defect and glycogen storage disease gsdvii with misleading enzyme histochemistry |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821086/ https://www.ncbi.nlm.nih.gov/pubmed/27066546 http://dx.doi.org/10.1212/NXG.0000000000000007 |
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