Editing Glycogen storage disease (section)

==Types==
{{clear}}
{| class="wikitable"
 ! Type<br />(Eponym)
 ! Enzyme deficiency<br />(Gene<ref name="medbiochem"/>)
 ! Incidence (births)
 ! [[Hypoglycemia|Hypo-<br />glycemia]]?
 ! [[Hepatomegaly|Hepato-<br />megaly]]?
 ! [[Hyperlipidemia|Hyper-<br />lipidemia]]?
 ! Muscle symptoms
 ! Development/ prognosis
 ! Other symptoms
 |-
 | [[Glycogen storage disease type 0|GSD 0]]
(Lewis' disease)<ref>{{Cite web |title=Glycogen Storage Diseases |url=https://my.clevelandclinic.org/health/diseases/15553-glycogen-storage-disease-gsd |access-date=2023-12-29 |website=Cleveland Clinic |language=en}}</ref>
 | [[Glycogen synthase]] <br />(Muscle [[Glycogen synthase|GYS1]] / Liver [[GYS2]])
 | 1 in 20,000–25,000<ref>{{Cite journal |date=2022-10-10 |title=Glycogen-Storage Disease Type 0 (GSD-0) (Glycogen Synthetase Deficiency): Background, Pathophysiology, Epidemiology |url=https://emedicine.medscape.com/article/944467-overview}}</ref>
 | Liver 0a: Yes
Muscle 0b: No
 | No
 | No
 | (Muscle 0b) Glycogen deficiency in muscle fibres. Type I muscle fibre predominance. Exercise-induced, muscle fatigue, myalgia, fainting.<ref name=":26">{{Cite web |title=GLYCOGEN STORAGE DISEASE 0, MUSCLE; GSD0B |url=https://www.omim.org/entry/611556 |access-date=2023-12-29 |website=www.omim.org |language=en-us}}</ref><ref name=":25">{{Cite web |title=Glycogen Storage Disease type 0 |url=https://medlineplus.gov/download/genetics/condition/glycogen-storage-disease-type-0.pdf |website=MedLine Plus}}</ref> Occasional [[muscle cramp]]ing {{citation needed|date=December 2023}}
 | (Liver 0a) Growth failure in some cases.<ref name=":27" />
(Muscle 0b) Risk of sudden death in childhood due to cardiac arrest.<ref name=":26" />
 |
(Liver 0a) Epilepsy<ref name=":27">{{Cite web |title=GLYCOGEN STORAGE DISEASE 0, LIVER; GSD0A |url=https://www.omim.org/entry/240600 |access-date=2023-12-29 |website=www.omim.org |language=en-us}}</ref>

(Muscle 0b) Rarely epilepsy, tonic-clonic seizures.<ref name=":26" /> Arrhythmia, long QT syndrome.<ref name=":25" />
|-
 | [[Glycogen storage disease type I|GSD I]] / GSD 1 <br />([[von Gierke's disease]])
 | [[Glucose-6-phosphatase]] / [[Glucose-6-phosphate translocase]]  <br />([[G6PC]] / [[SLC37A4]] /[[SLC17A3]])
 | {{ntsh|75000}}1 in 50,000&nbsp;– 100,000<ref name=Roth/><ref>{{cite web|url=http://www.agsdus.org/type-i.php|publisher=Association for Glycogen Storage Diseases (AGSD)|title=Glycogen Storage Disease Type I|date=October 2006|archive-url=https://web.archive.org/web/20210411204929/https://agsdus.org/type-i.php|archive-date=11 April 2021}}</ref><ref name="Glucose-6-Phosphate dehydrogenase d">{{cite journal|last1=Cantú-Reyna |first1=C.|last2=Santos-Guzmán|first2=J.|last3=Cruz-Camino |first3=H.|last4=.Vazquez Cantu |first4=D.L.|last5=Góngora-Cortéz |first5=J.J. |last6=Gutiérrez-Castillo |first6=A.|url=https://content.iospress.com/articles/journal-of-neonatal-perinatal-medicine/npm1831|title=Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population |journal=Journal of Neonatal-Perinatal Medicine |date=4 February 2019|volume=12 |issue=2|pages=203–207|doi=10.3233/NPM-1831|pmid=30741698 |s2cid=73452760}}</ref>
 | Yes
 | Yes
 | Yes
 | None
 | [[Growth failure]]
 | [[Lactic acidosis]], [[hyperuricemia]]
 |-
 | [[Glycogen storage disease type II|GSD II]] / GSD 2 <br />([[Pompe disease]], formerly GSD-IIa)
----[[Danon disease]] (formerly GSD-IIb)
 | [[Acid alpha-glucosidase]]
([[Acid alpha-glucosidase|GAA]])
----[[LAMP2|Lysosome-associated membrane protein 2]]<br />([[LAMP2]])
 | {{ntsh|13000}}Pompe disease is 1 in 13,000.<ref>{{Cite journal|doi=10.1542/peds.2016-0280C|title=Newborn Screening for Pompe Disease|year=2017|last1=Bodamer|first1=Olaf A.|last2=Scott|first2=C. Ronald|last3=Giugliani|first3=Roberto|author4=Pompe Disease Newborn Screening Working Group|journal=Pediatrics|volume=140|issue=Suppl 1|pages=S4–S13|pmid=29162673|s2cid=43782810|doi-access=free}}</ref>
 | No
 | Yes
 | No
 | [[Muscle weakness]], [[exercise intolerance]], abnormal lysosomal glycogen accumulation in muscle biopsy. Late-onset Pompe may have a [[pseudoathletic appearance]] of hypertrophic calf muscles.<ref name=":18">{{Cite journal |last1=Menon |first1=M. Suraj |last2=Roopch |first2=P. Sreedharan |last3=Kabeer |first3=K. Abdulkhayar |last4=Shaji |first4=C. Velayudhan |date=July 2016 |title=Calf Muscle Hypertrophy in Late Onset Pompe's Disease |journal=Archives of Medicine and Health Sciences |language=en-US |volume=4 |issue=2 |pages=251 |doi=10.4103/2321-4848.196188 |issn=2321-4848 |s2cid=58424073 |doi-access=free}}</ref>
The symptoms of both Pompe and Danon diseases are very similar due to a defect in lysosomes. However, in Danon disease, some show abnormal glycogen accumulation, but not all.<ref>{{Cite web |date=3 June 1986 |title=OMIM - # 300257 DANON DISEASE |url=https://www.omim.org/entry/300257 |website=OMIM&nbsp;— Online Medelian Inheritance in Man}}</ref>
 | Progressive proximal skeletal muscle weakness with varied timeline to threshold of functional limitation (early childhood to adulthood). Approximately 15% of the Pompe population is classified as infantile Pompe which is typically deadly within the first year if untreated.
 | [[Heart failure]] (infantile), respiratory difficulty (due to muscle weakness)
 |-
 | [[Glycogen storage disease type III|GSD III]] / GSD 3 <br />([[Cori's disease]] or [[Forbes' disease]])
 | [[Glycogen debranching enzyme]]<br />([https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=321 AGL] {{Webarchive|url=https://web.archive.org/web/20171204222946/https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=321 |date=2017-12-04 }})
 | {{ntsh|100000}}1 in 100,000
 | Yes
 | Yes
 | Yes
 | Myopathy. May have a [[pseudoathletic appearance]] of hypertrophic muscles.<ref name=":8" />
 |[[Failure to thrive]]<ref name="Tegay 2022 m937">{{cite journal | last=Tegay | first=David H | title=Genetics of Glycogen-Storage Disease Type III Clinical Presentation: History, Physical, Causes | website=Medscape Reference | date=March 15, 2022 |url=https://emedicine.medscape.com/article/942618-clinical#showall | access-date=October 24, 2023}}</ref>
 |
myogenic [[hyperuricemia]]<ref name=":0">Mineo I, Kono N, Hara N, Shimizu T, Yamada Y, Kawachi M, Kiyokawa H, Wang YL, Tarui S. Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII. N Engl J Med. 1987 Jul 9;317(2):75-80. doi: 10.1056/NEJM198707093170203. [//www.ncbi.nlm.nih.gov/pubmed/3473284?dopt=Abstract PMID 3473284].</ref>
|-
 | [[Glycogen storage disease type IV|GSD IV]] / GSD 4<br />([[Andersen's disease]])
 | [[Glycogen branching enzyme]]<br />([[GBE1]])
 | {{ntsh|500000}}1 in 500,000<ref name="ceaccp.oxfordjournals.org">{{Cite journal |doi = 10.1093/bjaceaccp/mkq055|title = Perioperative care of children with inherited metabolic disorders|journal = Continuing Education in Anaesthesia, Critical Care & Pain|volume = 11|issue = 2|pages = 62–68|year = 2011|last1 = Stuart|first1 = Grant|last2 = Ahmad|first2 = Nargis|doi-access = free}}</ref>
 | No
 | Yes,<br />also<br /> [[cirrhosis]]
 | No
 | Myopathy and dilated cardiomyopathy
 | [[Failure to thrive]], death at age ~5 years
 |
 |-
 | [[Glycogen storage disease type V|GSD V]] / GSD 5<br />([[McArdle's disease]])
 | [[Muscle glycogen phosphorylase]]<br />([[Myophosphorylase|PYGM]])
 | {{ntsh|250000}}1 in 100,000&nbsp;– 500,000<ref>{{cite book|last1=Khattak|first1=Zoia E.|title=McArdle Disease|date=January 2022|url=http://www.ncbi.nlm.nih.gov/books/NBK560785/|work=StatPearls|place=Treasure Island, Florida (FL)|url-status=live|archive-url=https://web.archive.org/web/20220427180218/http://www.ncbi.nlm.nih.gov/books/NBK560785/|archive-date=27 April 2022|publisher=[[StatPearls Publishing]]|pmid=32809620|access-date=7 July 2022|last2=Ashraf|first2=Muddasir}}</ref><ref name="ceaccp.oxfordjournals.org"/>
 | No
 | No
 | No
 |Exercise-induced muscle fatigue and cramps. [[Rhabdomyolysis]] possible. May have a [[pseudoathletic appearance]] of hypertrophic calf muscles.<ref name=":11">{{Cite journal |last1=Rodríguez-Gómez |first1=I. |last2=Santalla |first2=A. |last3=Díez-Bermejo |first3=J. |last4=Munguía-Izquierdo |first4=D. |last5=Alegre |first5=L. M. |last6=Nogales-Gadea |first6=G. |last7=Arenas |first7=J. |last8=Martín |first8=M. A. |last9=Lucía |first9=A. |last10=Ara |first10=I. |date=November 2018 |title=Non-osteogenic muscle hypertrophy in children with McArdle disease |url=https://pubmed.ncbi.nlm.nih.gov/29594644/ |journal=Journal of Inherited Metabolic Disease |volume=41 |issue=6 |pages=1037–1042 |doi=10.1007/s10545-018-0170-7 |issn=1573-2665 |pmid=29594644|hdl=10578/19657 |s2cid=4394513 |hdl-access=free }}</ref>
 |
 | [[Renal failure]] by [[myoglobinuria]], [[second wind phenomenon]], inappropriate rapid heart rate ([[sinus tachycardia]]) response to exercise, myogenic [[hyperuricemia]]<ref name=":0" />
 |-
 | [[Glycogen storage disease type VI|GSD VI]] / GSD 6 <br />([[Hers' disease]])
 | [[Liver glycogen phosphorylase]] <br />([[PYGL]])
 | {{ntsh|75000}}1 in 65,000&nbsp;– 85,000<ref name="Ierardi-Curto">{{cite news|url=http://emedicine.medscape.com/article/950587-overview|title=Genetics of Glycogen Storage Disease Type VI (Hers Disease)|publisher=[[eMedicine]] (Medscape Reference)|first1=Anna V.|last1=Blenda|first2=Renee J.|last2=Chosed|first3=Mary L.|last3=Windle|first5=Lynne I
|last5=Curto|first4=Maria|last4=Descartes|first6=Edward|last6=Kaye|date=4 Aug 2008|archive-url=https://web.archive.org/web/20220101134503/https://emedicine.medscape.com/article/950587-overview|archive-date=1 January 2022}}</ref>
 | Yes
 | Yes
 | Yes<ref>{{cite book|last1=Goldman|first1=Lee|last2=Schafer|first2=Andrew|title=Goldman's Cecil medicine|year=2012|edition =24th|publisher=Elsevier/Saunders|location=Philadelphia|isbn=978-1-4377-1604-7|page=1356}}</ref>
 |None
 | initially benign, developmental delay follows.
 |
 |-
 | [[Glycogen storage disease type VII|GSD VII]] / GSD 7 <br />([[Tarui's disease]])
 | [[Phosphofructokinase 1|Muscle phosphofructokinase]] <br />([[PFKM]])
 | {{ntsh|1000000}}1 in 1,000,000<ref>{{cite web|title=Rare Disease Database|url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=371|website=Orpha.net|access-date=2015-09-20}}</ref>
 | No
 | No
 | No
 |Exercise-induced muscle cramps and weakness
 | [[Developmental disability|developmental delay]]
 | In some [[haemolytic anaemia]],
myogenic [[hyperuricemia]]<ref name=":0" />
 |-
 | [[Glycogen storage disease type IX|GSD IX]] / GSD 9
 | [[Phosphorylase kinase]] <br />([[PHKA2]] / [[PHKB]] / [[PHKG2]] / [[PHKA1]])
 | ?
 | Yes
 | Yes
 | Yes
 | IXd Exercise-induced muscle cramps, stiffness, weakness (fatigue), and pain.<ref>{{Cite web |title=GLYCOGEN STORAGE DISEASE IXd; GSD9D |url=https://www.omim.org/entry/300559 |access-date=2023-12-29 |website=www.omim.org |language=en-us}}</ref>
 | Liver type: [[Delayed motor development]], [[Developmental disability|Developmental delay]]
 |
 |-
 | [[Glycogen storage disease type X|GSD X]] / GSD 10
 |[[Phosphoglycerate mutase|Muscle Phosphoglycerate mutase]]([https://ghr.nlm.nih.gov/gene/PGAM2 PGAM2])
| ?
 | ?
 | ?
 | ?
 |Exercise-induced muscle cramps and weakness<ref name=":21" />
 |
 |Myoglobinuria<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/phosphoglycerate-mutase-deficiency|title=Phosphoglycerate mutase deficiency|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2019-02-06}}</ref>
 |-
 | [[Glycogen storage disease type XI|GSD XI]] / GSD 11
 | [[lactate dehydrogenase|Muscle lactate dehydrogenase]]<br />([[LDHA]])
 | ?
 | ?
 | ?
 | ?
 |
Exercise-induced muscle cramps, stiffness, pain.<ref>{{Cite web |title=GLYCOGEN STORAGE DISEASE XI; GSD11 |url=https://www.omim.org/entry/612933 |access-date=2023-12-29 |website=www.omim.org |language=en-us}}</ref>
|
 |
 |-
 | [[Fanconi-Bickel syndrome]]<br />formerly [[Glycogen storage disease type XI|GSD XI]] / GSD 11, no longer considered a GSD
 | [[Glucose transporter]]<br />([[GLUT2]])
 | ?
 | Yes
 |

Yes
 | No
 | None
 |
 |
 |-
 | GSD XII / GSD 12<br />{{Nowrap|([[Aldolase A deficiency]])}}
 | [[Aldolase A]]<br />([[ALDOA]])
 | ?
 | No
 | In some
 | No
 | [[Exercise intolerance]], [[cramps]]. In some Rhabdomyolysis.
 |
 | Hemolytic anemia and [[Aldolase A deficiency#Symptoms and signs|other symptoms]]
 |-
 | [[Glycogen storage disease type XIII|GSD XIII]] / GSD 13
 | [[enolase|β-enolase]]<br />([[ENO3]])
 | ?
 | No
 | ?
 | No
 | [[Exercise intolerance]], [[cramps]]
 | Increasing intensity of [[myalgia]]s over decades<ref name="Httpneuromuscularwustledumsysglycogenhtmlenolase">{{Cite web |url=http://neuromuscular.wustl.edu/msys/glycogen.html#enolase | title=Glycogenoses}}</ref>
 | [[Creatine kinase|Serum CK]]: Episodic elevations; Reduced with rest<ref name="Httpneuromuscularwustledumsysglycogenhtmlenolase"/>
|-
|[[Congenital disorder of glycosylation|CDG]]1T (formally GSD XIV / GSD 14)
|[[Phosphoglucomutase|<small>Phosphoglucomutase-1</small>]]([[PGM1]])
|?
|Episodic
|?
|No
|Two forms: exclusively myopathic and multi-system (including muscles).<ref name=":9">{{Cite journal |last1=Altassan |first1=Ruqaiah |last2=Radenkovic |first2=Silvia |last3=Edmondson |first3=Andrew C. |last4=Barone |first4=Rita |last5=Brasil |first5=Sandra |last6=Cechova |first6=Anna |last7=Coman |first7=David |last8=Donoghue |first8=Sarah |last9=Falkenstein |first9=Kristina |last10=Ferreira |first10=Vanessa |last11=Ferreira |first11=Carlos |last12=Fiumara |first12=Agata |last13=Francisco |first13=Rita |last14=Freeze |first14=Hudson |last15=Grunewald |first15=Stephanie |date=January 2021 |title=International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management |journal=Journal of Inherited Metabolic Disease |volume=44 |issue=1 |pages=148–163 |doi=10.1002/jimd.12286 |issn=0141-8955 |pmc=7855268 |pmid=32681750}}</ref>
Myopathy (including exercise-related fatigue, [[exercise intolerance]], muscle weakness).
Muscle biopsy shows glycogen accumulation.<ref name=":1">{{Cite web |title=Entry - #614921 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T&nbsp;— OMIM |url=https://omim.org/entry/614921 |access-date=2023-02-23 |website=omim.org |language=en-us}}</ref>
|Short stature, some have developmental delay, and rarely delayed puberty.<ref name=":1" />
|Highly variable phenotype and severity. Commonly elevated serum CK, abnormal serum transferrin (loss of complete N-glycans), short stature, cleft palate, bifid uvula, and hepatopathy.<ref name=":1" />
[[Second wind|Second Wind]] phenomenon in some<ref name=":10">{{Cite journal |last1=Preisler |first1=Nicolai |last2=Cohen |first2=Jonathan |last3=Vissing |first3=Christoffer Rasmus |last4=Madsen |first4=Karen Lindhardt |last5=Heinicke |first5=Katja |last6=Sharp |first6=Lydia Jane |last7=Phillips |first7=Lauren |last8=Romain |first8=Nadine |last9=Park |first9=Sun Young |last10=Newby |first10=Marta |last11=Wyrick |first11=Phil |last12=Mancias |first12=Pedro |last13=Galbo |first13=Henrik |last14=Vissing |first14=John |last15=Haller |first15=Ronald Gerald |date=November 2017 |title=Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency |url=https://linkinghub.elsevier.com/retrieve/pii/S1096719217304079 |journal=Molecular Genetics and Metabolism |language=en |volume=122 |issue=3 |pages=117–121 |doi=10.1016/j.ymgme.2017.08.007|pmid=28882528 }}</ref> but not all<ref name="nejm.org"/>
|-
 | [[Glycogen storage disease type XV|GSD XV]] / GSD 15
 | [[Glycogenin-1]]<br />([[GYG1]])
 | Rare<ref name="Malfatti2014">Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A (2014) A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol 76(6):891-898
</ref>
 | No
 | No
 | No
 | Muscle atrophy, exercise intolerance, muscle biopsy shows abnormal glycogen depletion and marked proliferation of slow-twitch (type 1/oxidative) muscle fibres and mitochondrial proliferation.
 | Slowly progressive weakness over decades
 | Arrhythmia, biopsy of heart showed abnormal glycogen deposits (different from polyglucosan bodies) in cardiomyocytes.<ref>{{Cite journal |last1=Moslemi |first1=Ali-Reza |last2=Lindberg |first2=Christopher |last3=Nilsson |first3=Johanna |last4=Tajsharghi |first4=Homa |last5=Andersson |first5=Bert |last6=Oldfors |first6=Anders |date=April 2010 |title=Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis |journal=New England Journal of Medicine |language=en |volume=362 |issue=13 |pages=1203–1210 |doi=10.1056/NEJMoa0900661 |pmid=20357282 |issn=0028-4793|doi-access=free }}</ref>
|}

* Some GSDs have different forms, e.g. infantile, juvenile, adult (late-onset).{{cn|date=October 2024}}
* Some GSDs have different subtypes, e.g. GSD1a / GSD1b, GSD9A1 / GSD9A2 / GSD9B / GSD9C / GSD9D.<ref name="medbiochem"/>
* GSD type 0: Although [[glycogen synthase]] deficiency does not result in storage of extra glycogen in the liver, it is classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems.{{cn|date=October 2024}}
* GSD type VIII (GSD 8): In the past, liver phosphorylase-b kinase deficiency was considered a distinct condition,<ref name="pmid4508182">{{cite journal |vauthors=Ludwig M, Wolfson S, Rennert O |title=Glycogen storage disease, type 8 |journal=Arch. Dis. Child. |volume=47 |issue=255 |pages=830–833 |date=October 1972 |pmid=4508182 |pmc=1648209 |doi= 10.1136/adc.47.255.830}}</ref> however it has been classified with GSD type VI<ref name="Ierardi-Curto"/> and GSD IXa1;<ref>[https://www.omim.org/entry/306000  GLYCOGEN STORAGE DISEASE IXa1; GSD9A1] OMIM&nbsp;— Online Mendelian Inheritance in Man</ref> it has been described as [[X-linked recessive]] inherited.<ref name="urlDefinition: glycogen storage disease type VIII from Online Medical Dictionary">{{Cite web |url=http://cancerweb.ncl.ac.uk/cgi-bin/omd?glycogen+storage+disease+type+VIII |title=Definition: glycogen storage disease type VIII from Online Medical Dictionary |access-date=2008-09-01 |archive-date=2009-07-03 |archive-url=https://web.archive.org/web/20090703034525/http://cancerweb.ncl.ac.uk/cgi-bin/omd?glycogen+storage+disease+type+VIII |url-status=dead }}</ref> GSD IX has become the dominant classification for this disease, grouped with the other isoenzymes of phosphorylase-b kinase deficiency.<ref>{{Citation |last1=Herbert |first1=Mrudu |title=Phosphorylase Kinase Deficiency |date=1993 |url=http://www.ncbi.nlm.nih.gov/books/NBK55061/ |work=GeneReviews® |editor-last=Adam |editor-first=Margaret P. |place=Seattle (WA) |publisher=University of Washington, Seattle |pmid=21634085 |access-date=2023-02-26 |last2=Goldstein |first2=Jennifer L. |last3=Rehder |first3=Catherine |last4=Austin |first4=Stephanie |last5=Kishnani |first5=Priya S. |last6=Bali |first6=Deeksha S. |editor2-last=Everman |editor2-first=David B. |editor3-last=Mirzaa |editor3-first=Ghayda M. |editor4-last=Pagon |editor4-first=Roberta A.}}</ref>
* GSD type XI (GSD 11): [[Fanconi-Bickel syndrome]] (GLUT2 deficiency), hepatorenal glycogenosis with renal Fanconi syndrome, no longer considered a glycogen storage disease, but a defect of glucose transport.<ref name="medbiochem"/> The designation of GSD type XI (GSD 11) has been repurposed for [[Lactate dehydrogenase#Genetics|muscle lactate dehydrogenase deficiency]] (LDHA).{{cn|date=October 2024}}
* GSD type XIV (GSD 14): No longer classed as a GSD, but as a [[congenital disorder of glycosylation]] type 1T (CDG1T), affects the phosphoglucomutase enzyme (gene PGM1).<ref name="medbiochem">{{Cite web|url=https://themedicalbiochemistrypage.org/glycogen-metabolism/|title=Glycogen Metabolism|website=Themedicalbiochemistrypage.org|date=29 April 2020|access-date=5 July 2022}}</ref> [[Phosphoglucomutase#Disease relevance|Phosphoglucomutase 1 deficiency]] is both a glycogenosis and a congenital disorder of glycosylation.<ref name=":2">{{Cite journal |last1=Tegtmeyer |first1=Laura C. |last2=Rust |first2=Stephan |last3=van Scherpenzeel |first3=Monique |last4=Ng |first4=Bobby G. |last5=Losfeld |first5=Marie-Estelle |last6=Timal |first6=Sharita |last7=Raymond |first7=Kimiyo |last8=He |first8=Ping |last9=Ichikawa |first9=Mie |last10=Veltman |first10=Joris |last11=Huijben |first11=Karin |last12=Shin |first12=Yoon S. |last13=Sharma |first13=Vandana |last14=Adamowicz |first14=Maciej |last15=Lammens |first15=Martin |date=2014-02-06 |title=Multiple Phenotypes in Phosphoglucomutase 1 Deficiency |journal=New England Journal of Medicine |language=en |volume=370 |issue=6 |pages=533–542 |doi=10.1056/NEJMoa1206605 |issn=0028-4793 |pmc=4373661 |pmid=24499211}}</ref> Individuals with the disease have both a glycolytic block as muscle glycogen cannot be broken down, as well as abnormal serum transferrin (loss of complete N-glycans).<ref name=":2" /> As it affects glycogenolysis, it has been suggested that it should re-designated as GSD-XIV.<ref name="nejm.org" />
* [[Lafora disease]] is considered a complex neurodegenerative disease and also a glycogen metabolism disorder.<ref>{{cite journal | pmc=3917365 | date=2014 | last1=Ortolano | first1=S. | last2=Vieitez | first2=I. | last3=Agis-Balboa | first3=R. C. | last4=Spuch | first4=C. | title=Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease | journal=Molecular Brain | volume=7 | page=7 | doi=10.1186/1756-6606-7-7 | doi-access=free | pmid=24472629 }}</ref>
* Polyglucosan storage myopathies are associated with defective glycogen metabolism<ref>{{cite journal | doi=10.1016/j.mam.2015.08.006 | title=Polyglucosan storage myopathies | date=2015 | last1=Hedberg-Oldfors | first1=Carola | last2=Oldfors | first2=Anders | journal=Molecular Aspects of Medicine | volume=46 | pages=85–100 | pmid=26278982 }}</ref>
* (Not McArdle disease, same gene but different symptoms) Myophosphorylase-a activity impaired: Autosomal dominant mutation on PYGM gene. AMP-independent myophosphorylase activity impaired, whereas the AMP-dependent activity was preserved. No exercise intolerance. Adult-onset muscle weakness. Accumulation of the intermediate filament desmin in the myofibers of the patients.<ref>Echaniz-Laguna A, Lornage X, Laforêt P, Orngreen MC, Edelweiss E, Brochier G, Bui MT, Silva-Rojas R, Birck C, Lannes B, Romero NB, Vissing J, Laporte J, Böhm J. A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation. Ann Neurol. 2020 Aug;88(2):274-282. doi: 10.1002/ana.25771. Epub 2020 Jun 3. [//www.ncbi.nlm.nih.gov/pubmed/32386344?dopt=Abstract PMID 32386344].</ref><ref>{{Cite journal |last1=Echaniz-Laguna |first1=A. |last2=Lornage |first2=X. |last3=Edelweiss |first3=E. |last4=Laforêt |first4=P. |last5=Eymard |first5=B. |last6=Vissing |first6=J. |last7=Laporte |first7=J. |last8=Böhm |first8=J. |date=October 2019 |title=O.5A new glycogen storage disorder caused by a dominant mutation in the glycogen myophosphorylase gene (PYGM) |url=https://linkinghub.elsevier.com/retrieve/pii/S0960896619304110 |journal=Neuromuscular Disorders |language=en |volume=29 |pages=S39 |doi=10.1016/j.nmd.2019.06.023|s2cid=203582211 }}</ref> Myophosphorylase comes in two forms: form 'a' is phosphorylated by phosphorylase kinase, form 'b' is not phosphorylated. Both forms have two [[Conformational change|conformational]] states: active (R or relaxed) and inactive (T or tense). When either form 'a' or 'b' are in the active state, then the enzyme converts glycogen into glucose-1-phosphate. Myophosphorylase-b is allosterically activated by AMP being in larger concentration than ATP and/or glucose-6-phosphate. (See [[Glycogen phosphorylase#Regulation|Glycogen phosphorylase§Regulation]]).
* Unknown glycogenosis related to dystrophy gene deletion: patient has a previously undescribed myopathy associated with both Becker muscular dystrophy and a glycogen storage disorder of unknown aetiology.<ref>Rose MR, Howard RS, Genet SA, McMahon CJ, Whitfield A, Morgan-Hughes JA. A case of myopathy associated with a dystrophin gene deletion and abnormal glycogen storage. Muscle Nerve. 1993 Jan;16(1):57-62. doi: 10.1002/mus.880160110. [//www.ncbi.nlm.nih.gov/pubmed/8423832?dopt=Abstract PMID 8423832].</ref>