Ferreira, C. R., Rahman, S., Keller, M., Zschocke, J. & Group, I. A. An international classification of inherited metabolic disorders (ICIMD). J. Inherit. Metab. Dis. 44, 164–177 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Brown, L. M. et al. Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. J. Inherit. Metab. Dis. 38, 489–493 (2015).

Article  CAS  PubMed  Google Scholar 

Haring, M. P. D. et al. High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia. JHEP Rep. 4, 100512 (2022).

Article  PubMed  PubMed Central  Google Scholar 

Derks, T. G. J. et al. The potential of dietary treatment in patients with glycogen storage disease type IV. J. Inherit. Metab. Dis. 44, 693–704 (2021).

Article  CAS  PubMed  Google Scholar 

Santalla, A. et al. Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update. BMC Genomics 18, 819 (2017).

Article  PubMed  PubMed Central  Google Scholar 

Bruno, C. et al. McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Hum. Mutat. 27, 718 (2006).

Article  PubMed  Google Scholar 

Lucia, A. et al. Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group. Neuromusc. Disord. 31, 1296–1310 (2021). Clinical practice guidelines based on expert opinions for GSD V and GSD VII.

Article  PubMed  Google Scholar 

Herbert, M. et al. Phosphorylase Kinase Deficiency. GeneReviews [online] https://www.ncbi.nlm.nih.gov/books/NBK55061/ (updated 1 Nov 2018).

Kishnani, P. S. et al. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet. Med. 21, 772–789 (2019). Clinical practice guidelines based on expert opinions for GSD VI and GSD IX diagnosis and management.

Article  PubMed  Google Scholar 

Cho, S. Y., Lam, C. W., Tong, S. F. & Siu, W. K. X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation. Clin. Chim. Acta 426, 75–78 (2013).

Article  CAS  PubMed  Google Scholar 

Schreuder, A. B. et al. Glycogen Storage Disease Type III. GeneReviews [online] https://www.ncbi.nlm.nih.gov/books/NBK26372/ (updated 6 Jan 2022).

Kishnani, P. S. et al. Glycogen storage disease type III diagnosis and management guidelines. Genet. Med. 12, 446–463 (2010). Clinical practice guidelines based on expert opinion for GSD III diagnosis and management.

Article  CAS  PubMed  Google Scholar 

Martinez, M. et al. Infantile-onset Pompe disease with neonatal debut: a case report and literature review. Medicine 96, e9186 (2017).

Article  PubMed  PubMed Central  Google Scholar 

Dashty, M. A quick look at biochemistry: carbohydrate metabolism. Clin. Biochem. 46, 1339–1352 (2013).

Article  CAS  PubMed  Google Scholar 

Adeva-Andany, M. M., Gonzalez-Lucan, M., Donapetry-Garcia, C., Fernandez-Fernandez, C. & Ameneiros-Rodriguez, E. Glycogen metabolism in humans. BBA Clin. 5, 85–100 (2016).

Article  PubMed  PubMed Central  Google Scholar 

Kanungo, S., Wells, K., Tribett, T. & El-Gharbawy, A. Glycogen metabolism and glycogen storage disorders. Ann. Transl Med. 6, 474 (2018).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Han, H. S., Kang, G., Kim, J. S., Choi, B. H. & Koo, S. H. Regulation of glucose metabolism from a liver-centric perspective. Exp. Mol. Med. 48, e218 (2016). Provides a useful description of hormonal regulation of hepatic glucose metabolism.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jiang, G. & Zhang, B. B. Glucagon and regulation of glucose metabolism. Am. J. Physiol. Endocrinol. Metab. 284, E671–E678 (2003).

Article  CAS  PubMed  Google Scholar 

Ruderman, N. B., Aoki, T. T. & Cahill, G. F. in Gluconeogenesis: Its Regulation in Mammalian Species (eds Hanson, R. W. & Mehlman, M. A.) 515–530 (Wiley, 1976).

Sass, J. O. & Grünert, S. C. in Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases (eds Blau, N., Duran, M., Gibson, K. M. & Dionisi-Vici, C.) 361–371 (Springer, 2014).

Ferrier, D. R. in Lippincott Illustrated Reviews: Biochemistry 7th edn Ch. 24 321–336 (Wolters Kluwer, 2017). This book chapter, entitled ‘The feed–fast cycle’, provides a useful overview of different energy source contributions as individuals transition from postprandial to fasting states.

Herszberg, B. et al. A GYS1 gene mutation is highly associated with polysaccharide storage myopathy in Cob Normand draught horses. Anim. Genet. 40, 94–96 (2009).

Article  CAS  PubMed  Google Scholar 

Firshman, A. M., Valberg, S. J., Bender, J. B., Annandale, E. J. & Hayden, D. W. Comparison of histopathologic criteria and skeletal muscle fixation techniques for the diagnosis of polysaccharide storage myopathy in horses. Vet. Pathol. 43, 257–269 (2006).

Article  CAS  PubMed  Google Scholar 

Hedberg-Oldfors, C. & Oldfors, A. Polyglucosan storage myopathies. Mol. Asp. Med. 46, 85–100 (2015).

Article  CAS  Google Scholar 

Martín, M. A. et al. Glycogen Storage Disease Type V. GeneReviews [online] https://www.ncbi.nlm.nih.gov/books/NBK1344/ (updated 20 Jun 2019).

Echaniz-Laguna, A. et al. A new glycogen storage disease caused by a dominant PYGM mutation. Ann. Neurol. 88, 274–282 (2020).

Article  CAS  PubMed  Google Scholar 

Brushia, R. J. & Walsh, D. A. Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure. Front. Biosci. 4, D618–D641 (1999).

Article  CAS  PubMed  Google Scholar 

Zhai, L., Feng, L., Xia, L., Yin, H. & Xiang, S. Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations. Nat. Commun. 7, 11229 (2016).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Van Hoof, F. & Hers, H. G. The subgroups of type 3 glycogenosis. Eur. J. Biochem. 2, 265–270 (1967).

Article  PubMed  Google Scholar 

Shen, J. et al. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J. Clin. Invest. 98, 352–357 (1996).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Altassan, R. et al. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up, and management. J. Inherit. Metab. Dis. 44, 148–163 (2021). Guidelines based on expert opinions for diagnosis, follow-up and management of PGM1-CDG.

Article  CAS  PubMed  Google Scholar 

Kishnani, P. S. et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American college of medical genetics and genomics. Genet. Med. 16, e1 (2014). Clinical practice guidelines based on expert opinions for GSD I diagnosis and management.

Article  CAS  PubMed  Google Scholar 

Boztug, K. et al. A syndrome with congenital neutropenia and mutations in G6PC3. N. Engl. J. Med. 360, 32–43 (2009).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Burchell, A., Allan, B. B. & Hume, R. Glucose-6-phosphatase proteins of the endoplasmic reticulum. Mol. Membr. Biol. 11, 217–227 (1994).

Article  CAS  PubMed  Google Scholar 

Kishnani, P. S. et al. Pompe disease diagnosis and management guideline. Genet. Med. 8, 267–288 (2006). Clinical practice guidelines based on expert opinions for diagnosis and management of Pompe disease.

Article  PubMed  PubMed Central  Google Scholar 

Zampieri, S. et al. Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes. Eur. J. Hum. Genet. 19, 422–431 (2011).

Article  CAS  PubMed  Google Scholar 

Kroos, M., Hoogeveen-Westerveld, M., van der Ploeg, A. & Reuser, A. J. The genotype–phenotype correlation in Pompe disease. Am. J. Med. Genet. C. Semin. Med. Genet. 160C, 59–68 (2012).

Article  PubMed  Google Scholar 

Akman, H. O., Oldfors, A. & DiMauro, S. in Neuromuscular Disorders of Infancy, Childhood, and Adolescence (eds Darras, B. T., Jones, H. R., Jr, Ryan, M. M. & DeVivo, D. C.) 735–760 (Elsevier, 2015).

Tarui, S. et al. Phosphofructokinase deficiency in skeletal muscle. a new type of glycogenosis. Biochem. Biophys. Res. Commun. 19, 517–523 (1965).

Article  CAS  PubMed  Google Scholar 

Haller, R. G. & Lewis, S. F. Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. N. Engl. J. Med. 324, 364–369 (1991).

Article  CAS  PubMed  Google Scholar 

Raben, N. & Sherman, J. B. Mutations in muscle phosphofructokinase gene. Hum. Mutat. 6, 1–6 (1995).

Article  CAS  PubMed  Google Scholar 

Brown, G. K. Glucose transporters: structure, function and consequences of deficiency. J. Inherit. Metab. Dis. 23, 237–246 (2000).

Article  CAS  PubMed  Google Scholar 

Rake, J. P. et al. Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease type I (ESGSD I). Eur. J. Pediatr. 161, S112–S119 (2002). Guidelines based on expert opinions for GSD I from the European Study on Glycogen Storage Disease Type I.

Article