Please use this identifier to cite or link to this item:
http://bura.brunel.ac.uk/handle/2438/20228
Title: | The need for biochemical testing in beta‐enolase deficiency in the genomic era |
Authors: | Wigley, R Scalco, RS Gardiner, AR Godfrey, R Booth, S Kirk, R Hilton‐Jones, D Houlden, H Heales, S Quinlivan, R |
Keywords: | ENO3,;glycogen storage disease type XIII,;kinetic profile,;β-enolase deficiency |
Issue Date: | 3-Sep-2019 |
Publisher: | Wiley |
Citation: | JIMD Reports, 2019, 50 (1), pp. 40 - 43 |
Abstract: | Glycogen storage disease type XIII (GSDXIII) is a very rare inherited metabolic myopathy characterized by autosomal‐recessive mutations in the ENO3 gene resulting in muscle β‐enolase deficiency, an enzymatic defect of the distal part of glycolysis. Enzyme kinetic studies of two patients presenting with exertion intolerance and recurrent rhabdomyolysis are reported. Next generation sequencing confirmed patient 1 was homozygous for p.E187K in ENO3, while patient 2 was homozygous for p.C357Y. ENO3 variants pathogenicity was confirmed by functional studies in skeletal muscle. p.E187K caused extremely low total enolase activity. p.C357Y was associated with a higher level of residual activity but kinetic studies showed a lower maximum work rate (Vmax). This study illustrates that GSDXIII may be caused by either null mutations leading to β‐enolase deficiency or by mutations that alter the enzyme's kinetic profile. This study highlights the importance of carrying out functional studies as part of the diagnostic process following the identification of variants with next generation sequencing. |
URI: | http://bura.brunel.ac.uk/handle/2438/20228 |
DOI: | http://dx.doi.org/10.1002/jmd2.12070 |
ISSN: | 2192-8312 http://dx.doi.org/10.1002/jmd2.12070 2192-8312 |
Appears in Collections: | Dept of Life Sciences Research Papers |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
FullText.pdf | 768.68 kB | Adobe PDF | View/Open |
Items in BURA are protected by copyright, with all rights reserved, unless otherwise indicated.