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Auranen M, Palmio J, Ylikallio E, et al. PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry. Neurol Genet. 2015;1(1):e7doi: 10.1212/NXG.0000000000000007.
Auranen, M., Palmio, J., Ylikallio, E., Huovinen, S., Paetau, A., Sandell, S., Haapasalo, H., Viitaniemi, K., Piirilä, P., Tyynismaa, H., & Udd, B. (2015). PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry. Neurology. Genetics, 1(1), e7. https://doi.org/10.1212/NXG.0000000000000007
Auranen, Mari, et al. "PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry." Neurology. Genetics vol. 1,1 (2015): e7. doi: https://doi.org/10.1212/NXG.0000000000000007
Auranen M, Palmio J, Ylikallio E, Huovinen S, Paetau A, Sandell S, Haapasalo H, Viitaniemi K, Piirilä P, Tyynismaa H, Udd B. PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry. Neurol Genet. 2015 Jun 04;1(1):e7. doi: 10.1212/NXG.0000000000000007. eCollection 2015 Jun. PMID: 27066546; PMCID: PMC4821086.
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Neurol Genet. 2015 Jun 04;1(1):e7. doi: 10.1212/NXG.0000000000000007. eCollection 2015 Jun.

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry.

Neurology. Genetics

Mari Auranen, Johanna Palmio, Emil Ylikallio, Sanna Huovinen, Anders Paetau, Satu Sandell, Hannu Haapasalo, Kati Viitaniemi, Päivi Piirilä, Henna Tyynismaa, Bjarne Udd

Affiliations

  1. Research Programs Unit (M.A., E.Y., H.T.), Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Neuromuscular Research Center (J.P., S.S., K.V., B.U.), Tampere University Hospital and University of Tampere, Tampere, Finland; Department of Pathology (S.H., H.H.), Fimlab Laboratories, University Hospital and University of Tampere, Tampere, Finland; Department of Pathology (A.P.), HUSLAB, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Neurology (S.S.), Seinäjoki Central Hospital, Seinäjoki, Finland; and Unit of Clinical Physiology (P.P.), HUS Medical Imaging Center, Helsinki University Hospital, Helsinki, Finland.

PMID: 27066546 PMCID: PMC4821086 DOI: 10.1212/NXG.0000000000000007

Abstract

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.

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