Glycogen storage diseases

Stable Identifier
Homo sapiens
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The regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to stress. Defects in the enzymes involved in glycogen turnover are associated with abnormal responses to fasting and exercise that can differ widely in their presentation and severity. Additional symptoms can be the result of accumulation of abnormal products of glycogen metabolism (Hauk et al. 1959; Hers 1964; Shin 2006). Annotations are provided here for diseases due to deficiencies of GYS1 and GYS1 (glycogen synthase 1 and 2; glycogen storage disease type 0 (GSD type 0), of G6PC (glucose-6-phosphatase, GSD type Ia) and the SLC37A4 transporter (GSD type Ib), of GAA (lysosomal acid alpha-glucosidase, GSD type II), of GBE1 (glycogen branching enzyme, GSD type IV), and of GYG1 (glycogenin 1, GSD XV). Two additional diseases, myoclonic epilepsy of Lafora (Roach et al. 2012) and severe congenital neutropenia type 4 (Boztug et al. 2009), are included as they are due to defects in enzymes of glycogen metabolism.

Literature References
PubMed ID Title Journal Year
19118303 A syndrome with congenital neutropenia and mutations in G6PC3

Klein, C, Kratz, C, Salzer, U, Brandes, G, Mönkemöller, K, Germeshausen, M, Lee-Gossler, J, Bellanné-Chantelot, C, Appaswamy, G, Minkov, M, Greil, J, Zeidler, C, Irani-Hakimeh, N, Boztug, K, Welte, K, Rezaei, N, Gatzke, AK, Petropoulou, T, Gerardy-Schahn, R, Schäffer, AA, Grimbacher, B, Noyan, F, Pellier, I, Diestelhorst, J, Bakker, H, Ashikov, A

N. Engl. J. Med. 2009
13670930 Enzymes of glycogen synthesis in glycogen-deposition disease

Cori, CF, Hauk, R, Illingworth, B, Brown, DH

Biochim. Biophys. Acta 1959
14171618 Glycogen storage disease

Hers, HG

Adv Metab Disord 1964
17027861 Glycogen storage disease: clinical, biochemical, and molecular heterogeneity

Shin, YS

Semin Pediatr Neurol 2006
22248338 Glycogen and its metabolism: some new developments and old themes

Hurley, TD, Roach, PJ, Tagliabracci, VS, DePaoli-Roach, AA

Biochem. J. 2012
Name Identifier Synonyms
glycogen storage disease DOID:2747 glycogenosis
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