The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada

doi:10.1016/j.ymgme.2014.09.005

Observational Study

. 2014 Nov;113(3):171-6.

doi: 10.1016/j.ymgme.2014.09.005. Epub 2014 Sep 21.

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada

Affiliations

¹ Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Medical University of Vienna, Department of Pediatric and Adolescent Medicine, Vienna, Austria.
² Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada.
³ Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Department of Pediatrics & Biochemical Genetics, Rady Children's Hospital-San Diego, University of California, San Diego, CA, USA.
⁴ Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
⁵ Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: saadet.mahmutoglu@sickkids.ca.

PMID: 25266922
DOI: 10.1016/j.ymgme.2014.09.005

Observational Study

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada

Anne Roscher et al. Mol Genet Metab. 2014 Nov.

. 2014 Nov;113(3):171-6.

doi: 10.1016/j.ymgme.2014.09.005. Epub 2014 Sep 21.

Affiliations

¹ Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Medical University of Vienna, Department of Pediatric and Adolescent Medicine, Vienna, Austria.
² Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada.
³ Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Department of Pediatrics & Biochemical Genetics, Rady Children's Hospital-San Diego, University of California, San Diego, CA, USA.
⁴ Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
⁵ Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: saadet.mahmutoglu@sickkids.ca.

PMID: 25266922
DOI: 10.1016/j.ymgme.2014.09.005

Abstract

Objectives: Glycogen storage disease (GSD) types VI and IX are caused by phosphorylase system deficiencies. To evaluate the natural history and long-term treatment outcome of the patients with GSD-VI and -IX, we performed an observational retrospective case study of 21 patients with confirmed diagnosis of GSD-VI or -IX.

Methods: All patients with GSD-VI or -IX, diagnosed at The Hospital for Sick Children, were included. Electronic and paper charts were reviewed for clinical features, biochemical investigations, molecular genetic testing, diagnostic imaging, long-term outcome and treatment by two independent research team members. All information was entered into an Excel database.

Results: We report on the natural history and treatment outcomes of the 21 patients with GSD-VI and -IX and 16 novel pathogenic mutations in the PHKA2, PHKB, PHKG2 and PYGL genes. We report for the first time likely liver adenoma on liver ultrasound and liver fibrosis on liver biopsy specimens in patients with GSD-VI and mild cardiomyopathy on echocardiography in patients with GSD-VI and -IXb.

Conclusion: We recommend close monitoring in all patients with GSD-VI and -IX for the long-term liver and cardiac complications. There is a need for future studies if uncooked cornstarch and high protein diet would be able to prevent long-term complications of GSD-VI and -IX.

Keywords: Glycogen storage disease types VI and IX; Liver fibrosis; Phosphorylase enzyme deficiency; Phosphorylase kinase enzyme deficiency; Uncooked cornstarch.

PubMed Disclaimer

Cited by

Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).
Mishra K, Kakhlon O. Mishra K, et al. Biomolecules. 2024 Sep 1;14(9):1096. doi: 10.3390/biom14091096. Biomolecules. 2024. PMID: 39334863 Free PMC article. Review.
Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.
Burrage LC, Madan S, Li X, Ali S, Mohammad M, Stroup BM, Jiang MM, Cela R, Bertin T, Jin Z, Dai J, Guffey D, Finegold M; Members of the Urea Cycle Disorders Consortium (UCDC); Nagamani S, Minard CG, Marini J, Masand P, Schady D, Shneider BL, Leung DH, Bali D, Lee B. Burrage LC, et al. JCI Insight. 2020 Feb 27;5(4):e132342. doi: 10.1172/jci.insight.132342. JCI Insight. 2020. PMID: 31990680 Free PMC article.
DDIEM: drug database for inborn errors of metabolism.
Abdelhakim M, McMurray E, Syed AR, Kafkas S, Kamau AA, Schofield PN, Hoehndorf R. Abdelhakim M, et al. Orphanet J Rare Dis. 2020 Jun 11;15(1):146. doi: 10.1186/s13023-020-01428-2. Orphanet J Rare Dis. 2020. PMID: 32527280 Free PMC article.
Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.
Zamanfar D, Hashemi-Soteh SM, Ghazaiean M, Keyhanian E. Zamanfar D, et al. J Med Case Rep. 2024 Jan 12;18(1):14. doi: 10.1186/s13256-023-04295-0. J Med Case Rep. 2024. PMID: 38212860 Free PMC article.
Glycogen Storage Disease Type IXb in a 3-y-old Child.
Jain S, Tullu MS, Muranjan MN, Karande S. Jain S, et al. Indian J Pediatr. 2024 Jan;91(1):100. doi: 10.1007/s12098-023-04718-2. Epub 2023 Jun 23. Indian J Pediatr. 2024. PMID: 37351782 No abstract available.

See all "Cited by" articles

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Supplementary concepts

Actions

LinkOut - more resources

Full Text Sources
- Elsevier Science
Other Literature Sources
- scite Smart Citations
Molecular Biology Databases
- The Weizmann Institute of Science GeneCards and MalaCards databases
Miscellaneous
- NCI CPTAC Assay Portal

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada

Affiliations

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada

Authors

Affiliations

Abstract

Similar articles

Cited by

Publication types

MeSH terms

Supplementary concepts

LinkOut - more resources

Full Text Sources

Other Literature Sources

Molecular Biology Databases

Miscellaneous

Abstract

Similar articles

Cited by

Publication types

MeSH terms

Supplementary concepts

Related information

LinkOut - more resources

Full Text Sources

Other Literature Sources

Molecular Biology Databases

Miscellaneous