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GLYCOGEN STORAGE DISEASE, TYPE IIIa

MedGen UID:
854175
•Concept ID:
C3695007
•
Disease or Syndrome
OMIM®: 610860

Professional guidelines

PubMed

Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa.
Du C, Wei H, Zhang M, Hu M, Li Z, Zhang C, Luo X, Liang Y
J Pediatr Endocrinol Metab 2020 Jul 28;33(7):923-930. doi: 10.1515/jpem-2019-0453. PMID: 32623374

Recent clinical studies

Etiology

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.
Hennis PJ, Murphy E, Meijer RI, Lachmann RH, Ramachandran R, Bordoli C, Rayat G, Tomlinson DJ
Orphanet J Rare Dis 2022 Jan 31;17(1):28. doi: 10.1186/s13023-022-02184-1. PMID: 35101075Free PMC Article
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.
Paschall A, Khan AA, Enam SF, Boggs T, Hijazi G, Bowling M, Austin S, Case LE, Kishnani P
Mol Genet Metab 2021 Nov;134(3):223-234. Epub 2021 Oct 9 doi: 10.1016/j.ymgme.2021.10.002. PMID: 34649782Free PMC Article
Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa.
Du C, Wei H, Zhang M, Hu M, Li Z, Zhang C, Luo X, Liang Y
J Pediatr Endocrinol Metab 2020 Jul 28;33(7):923-930. doi: 10.1515/jpem-2019-0453. PMID: 32623374
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.
Decostre V, Laforêt P, De Antonio M, Kachetel K, Canal A, Ollivier G, Nadaj-Pakleza A, Petit FM, Wahbi K, Fayssoil A, Eymard B, Behin A, Labrune P, Hogrel JY
Mol Genet Metab 2017 Nov;122(3):108-116. Epub 2017 Aug 30 doi: 10.1016/j.ymgme.2017.08.010. PMID: 28888851
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
Rousseau-Nepton I, Okubo M, Grabs R; FORGE Canada Consortium, Mitchell J, Polychronakos C, Rodd C
CMAJ 2015 Feb 3;187(2):E68-E73. Epub 2015 Jan 19 doi: 10.1503/cmaj.140840. PMID: 25602008Free PMC Article

Diagnosis

Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa.
Du C, Wei H, Zhang M, Hu M, Li Z, Zhang C, Luo X, Liang Y
J Pediatr Endocrinol Metab 2020 Jul 28;33(7):923-930. doi: 10.1515/jpem-2019-0453. PMID: 32623374
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.
Decostre V, Laforêt P, De Antonio M, Kachetel K, Canal A, Ollivier G, Nadaj-Pakleza A, Petit FM, Wahbi K, Fayssoil A, Eymard B, Behin A, Labrune P, Hogrel JY
Mol Genet Metab 2017 Nov;122(3):108-116. Epub 2017 Aug 30 doi: 10.1016/j.ymgme.2017.08.010. PMID: 28888851
Peripheral neuropathy in glycogen storage disease type III: Fact or myth?
Herlin B, Laforět P, Labrune P, Fournier E, Stojkovic T
Muscle Nerve 2016 Feb;53(2):310-2. Epub 2015 Dec 29 doi: 10.1002/mus.24977. PMID: 26575860
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
Rousseau-Nepton I, Okubo M, Grabs R; FORGE Canada Consortium, Mitchell J, Polychronakos C, Rodd C
CMAJ 2015 Feb 3;187(2):E68-E73. Epub 2015 Jan 19 doi: 10.1503/cmaj.140840. PMID: 25602008Free PMC Article
Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.
Li XH, Gong QM, Ling Y, Huang C, Yu DM, Gu LL, Liao XW, Zhang DH, Hu XQ, Han Y, Kong XF, Zhang XX
Biochem Biophys Res Commun 2014 Dec 5;455(1-2):90-7. doi: 10.1016/j.bbrc.2014.10.096. PMID: 25451272

Therapy

Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype-specific: An investigator-initiated, randomized, crossover study.
Hoogeveen IJ, de Boer F, Boonstra WF, van der Schaaf CJ, Steuerwald U, Sibeijn-Kuiper AJ, Vegter RJK, van der Hoeven JH, Heiner-Fokkema MR, Clarke KC, Cox PJ, Derks TGJ, Jeneson JAL
J Inherit Metab Dis 2021 Jan;44(1):226-239. Epub 2020 Sep 7 doi: 10.1002/jimd.12302. PMID: 33448466Free PMC Article
Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III.
Preisler N, Laforêt P, Madsen KL, Prahm KP, Hedermann G, Vissing CR, Galbo H, Vissing J
Neurology 2015 Apr 28;84(17):1767-71. Epub 2015 Apr 1 doi: 10.1212/WNL.0000000000001518. PMID: 25832663
Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.
Aoyama Y, Endo Y, Ebara T, Murase T, Shin YS, Podskarbi T, Ozer I, Demirkol M, Gökçay G, Okubo M
Pediatr Int 2010 Feb;52(1):145-7. doi: 10.1111/j.1442-200X.2009.02943.x. PMID: 20158661
Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet.
Dagli AI, Zori RT, McCune H, Ivsic T, Maisenbacher MK, Weinstein DA
J Inherit Metab Dis 2009 Dec;32 Suppl 1(0 1):S103-6. Epub 2009 Mar 30 doi: 10.1007/s10545-009-1088-x. PMID: 19322675Free PMC Article
An adult case of glycogen storage disease type IIIa.
Kim KO, Lee HJ, Choi JW, Eun JR, Choi JH
Korean J Hepatol 2008 Jun;14(2):219-25. doi: 10.3350/kjhep.2008.14.2.219. PMID: 18617770

Prognosis

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.
Hennis PJ, Murphy E, Meijer RI, Lachmann RH, Ramachandran R, Bordoli C, Rayat G, Tomlinson DJ
Orphanet J Rare Dis 2022 Jan 31;17(1):28. doi: 10.1186/s13023-022-02184-1. PMID: 35101075Free PMC Article
Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa.
Du C, Wei H, Zhang M, Hu M, Li Z, Zhang C, Luo X, Liang Y
J Pediatr Endocrinol Metab 2020 Jul 28;33(7):923-930. doi: 10.1515/jpem-2019-0453. PMID: 32623374
Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.
Endo Y, Fateen E, Aoyama Y, Horinishi A, Ebara T, Murase T, Shin YS, Okubo M
J Hum Genet 2005;50(10):538-542. Epub 2005 Sep 28 doi: 10.1007/s10038-005-0291-3. PMID: 16189622
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.
Okubo M, Horinishi A, Takeuchi M, Suzuki Y, Sakura N, Hasegawa Y, Igarashi T, Goto K, Tahara H, Uchimoto S, Omichi K, Kanno H, Hayasaka K, Murase T
Hum Genet 2000 Jan;106(1):108-15. doi: 10.1007/s004390051017. PMID: 10982190
Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III.
Fukuda T, Sugie H, Ito M
J Inherit Metab Dis 2000 Mar;23(2):95-106. doi: 10.1023/a:1005695229464. PMID: 10801050

Clinical prediction guides

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study.
Hennis PJ, Murphy E, Meijer RI, Lachmann RH, Ramachandran R, Bordoli C, Rayat G, Tomlinson DJ
Orphanet J Rare Dis 2022 Jan 31;17(1):28. doi: 10.1186/s13023-022-02184-1. PMID: 35101075Free PMC Article
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.
Decostre V, Laforêt P, De Antonio M, Kachetel K, Canal A, Ollivier G, Nadaj-Pakleza A, Petit FM, Wahbi K, Fayssoil A, Eymard B, Behin A, Labrune P, Hogrel JY
Mol Genet Metab 2017 Nov;122(3):108-116. Epub 2017 Aug 30 doi: 10.1016/j.ymgme.2017.08.010. PMID: 28888851
Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.
Li XH, Gong QM, Ling Y, Huang C, Yu DM, Gu LL, Liao XW, Zhang DH, Hu XQ, Han Y, Kong XF, Zhang XX
Biochem Biophys Res Commun 2014 Dec 5;455(1-2):90-7. doi: 10.1016/j.bbrc.2014.10.096. PMID: 25451272
Mouse model of glycogen storage disease type III.
Liu KM, Wu JY, Chen YT
Mol Genet Metab 2014 Apr;111(4):467-76. Epub 2014 Feb 18 doi: 10.1016/j.ymgme.2014.02.005. PMID: 24613482
Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.
Endo Y, Fateen E, Aoyama Y, Horinishi A, Ebara T, Murase T, Shin YS, Okubo M
J Hum Genet 2005;50(10):538-542. Epub 2005 Sep 28 doi: 10.1007/s10038-005-0291-3. PMID: 16189622

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