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Glycogen storage disease due to muscle and heart glycogen synthase deficiency(GSD0B)

MedGen UID:
409741
Concept ID:
C1969054
Disease or Syndrome
Synonyms: Glycogen storage disease 0, muscle; GSD 0b; Muscle glycogen synthase deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): GYS1 (19q13.33)
 
Monarch Initiative: MONDO:0012693
OMIM®: 611556
Orphanet: ORPHA137625

Definition

The signs and symptoms of muscle GSD 0 typically begin in early childhood. Affected individuals often experience muscle pain and weakness or episodes of fainting (syncope) following moderate physical activity, such as walking up stairs. The loss of consciousness that occurs with fainting typically lasts up to several hours. Some individuals with muscle GSD 0 have a disruption of the heart's normal rhythm (arrhythmia) known as long QT syndrome. In all affected individuals, muscle GSD 0 impairs the heart's ability to effectively pump blood and increases the risk of cardiac arrest and sudden death, particularly after physical activity. Sudden death from cardiac arrest can occur in childhood or adolescence in people with muscle GSD 0.

Individuals with liver GSD 0 usually show signs and symptoms of the disorder in infancy. People with this disorder develop low blood sugar (glucose), known as hypoglycemia, after going long periods of time without food (fasting). Signs of hypoglycemia become apparent when affected infants begin sleeping through the night and stop late-night feedings; these infants exhibit extreme tiredness (lethargy), pale skin (pallor), and nausea. During episodes of fasting, ketone levels in the blood may increase (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars (such as glycogen) are unavailable. These short-term signs and symptoms of liver GSD 0 often improve when food is eaten and glucose levels in the body return to normal. The features of liver GSD 0 vary; they can be mild and go unnoticed for years, or they can include developmental delay and growth failure.

Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired. [from MedlinePlus Genetics]

Clinical features

From HPO
Exercise intolerance
MedGen UID:
603270
Concept ID:
C0424551
Finding
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
Stroke disorder
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Left atrial enlargement
MedGen UID:
536845
Concept ID:
C0238705
Finding
Increase in size of the left atrium.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Decreased muscle glycogen content
MedGen UID:
868580
Concept ID:
C4022979
Finding
A decreased amount of glycogen in muscle tissue.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlycogen storage disease due to muscle and heart glycogen synthase deficiency
Follow this link to review classifications for Glycogen storage disease due to muscle and heart glycogen synthase deficiency in Orphanet.

Recent clinical studies

Diagnosis

Musumeci O, Pugliese A, Oteri R, Volta S, Ciranni A, Moggio M, Rodolico C, Toscano A
Neuromuscul Disord 2022 Jul;32(7):582-589. Epub 2022 Mar 31 doi: 10.1016/j.nmd.2022.03.008. PMID: 35641353
Lamperti C, Salani S, Lucchiari S, Bordoni A, Ripolone M, Fagiolari G, Fruguglietti ME, Crugnola V, Colombo C, Cappellini A, Prelle A, Bresolin N, Comi GP, Moggio M
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S161-8. Epub 2009 Apr 8 doi: 10.1007/s10545-009-1134-8. PMID: 19357989

Therapy

Taylor KM, Meyers E, Phipps M, Kishnani PS, Cheng SH, Scheule RK, Moreland RJ
PLoS One 2013;8(2):e56181. Epub 2013 Feb 14 doi: 10.1371/journal.pone.0056181. PMID: 23457523Free PMC Article
Ashe KM, Taylor KM, Chu Q, Meyers E, Ellis A, Jingozyan V, Klinger K, Finn PF, Cooper CG, Chuang WL, Marshall J, McPherson JM, Mattaliano RJ, Cheng SH, Scheule RK, Moreland RJ
Mol Genet Metab 2010 Aug;100(4):309-15. Epub 2010 May 5 doi: 10.1016/j.ymgme.2010.05.001. PMID: 20554235

Prognosis

Musumeci O, Pugliese A, Oteri R, Volta S, Ciranni A, Moggio M, Rodolico C, Toscano A
Neuromuscul Disord 2022 Jul;32(7):582-589. Epub 2022 Mar 31 doi: 10.1016/j.nmd.2022.03.008. PMID: 35641353
Taylor KM, Meyers E, Phipps M, Kishnani PS, Cheng SH, Scheule RK, Moreland RJ
PLoS One 2013;8(2):e56181. Epub 2013 Feb 14 doi: 10.1371/journal.pone.0056181. PMID: 23457523Free PMC Article
Ashe KM, Taylor KM, Chu Q, Meyers E, Ellis A, Jingozyan V, Klinger K, Finn PF, Cooper CG, Chuang WL, Marshall J, McPherson JM, Mattaliano RJ, Cheng SH, Scheule RK, Moreland RJ
Mol Genet Metab 2010 Aug;100(4):309-15. Epub 2010 May 5 doi: 10.1016/j.ymgme.2010.05.001. PMID: 20554235
Lamperti C, Salani S, Lucchiari S, Bordoni A, Ripolone M, Fagiolari G, Fruguglietti ME, Crugnola V, Colombo C, Cappellini A, Prelle A, Bresolin N, Comi GP, Moggio M
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S161-8. Epub 2009 Apr 8 doi: 10.1007/s10545-009-1134-8. PMID: 19357989

Clinical prediction guides

Taylor KM, Meyers E, Phipps M, Kishnani PS, Cheng SH, Scheule RK, Moreland RJ
PLoS One 2013;8(2):e56181. Epub 2013 Feb 14 doi: 10.1371/journal.pone.0056181. PMID: 23457523Free PMC Article
Douillard-Guilloux G, Raben N, Takikita S, Ferry A, Vignaud A, Guillet-Deniau I, Favier M, Thurberg BL, Roach PJ, Caillaud C, Richard E
Hum Mol Genet 2010 Feb 15;19(4):684-96. Epub 2009 Dec 3 doi: 10.1093/hmg/ddp535. PMID: 19959526Free PMC Article

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