Glycogen Storage Disease 0, Liver; Gsd0a

Description

Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.

Clinical Features

Top most frequent phenotypes and symptoms related to Glycogen Storage Disease 0, Liver; Gsd0a

  • Seizures
  • Global developmental delay
  • Short stature
  • Pica
  • Failure to thrive
  • Fatigue
  • Elevated hepatic transaminase
  • Hypoglycemia
  • Irritability
  • Pallor
And another 16 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Glycogen Storage Disease 0, Liver; Gsd0a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ALDOB, FBP1,GYS2 & PC Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ALDOB, FBP1, PC, GYS2
Specificity
25 %
Genes
100 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
GYS2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GYS2
Specificity
100 %
Genes
100 %
GYS2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GYS2
Specificity
100 %
Genes
100 %
GYS2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GYS2
Specificity
100 %
Genes
100 %
GYS2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

GYS2
Specificity
100 %
Genes
100 %
Glycogen synthase deficiency Type 0, liver.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GYS2
Specificity
100 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Gluconeogenesis Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ALDOB, FBP1, PC, GYS2
Specificity
25 %
Genes
100 %
Glycogen Storage Disease Type 0, Liver.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

GYS2
Specificity
100 %
Genes
100 %
Glycogen Storage Disease- Liver.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2, PFKL, GYG2
Specificity
8 %
Genes
100 %
GYS2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GYS2
Specificity
100 %
Genes
100 %
Ketotic Hypoglycemia Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
10 %
Genes
100 %
Ketotic Hypoglycemia Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
10 %
Genes
100 %
Glycogen Storage Disease Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
6 %
Genes
100 %
Ketotic Hypoglycemia Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
10 %
Genes
100 %
Glycogen Storage Disease Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
6 %
Genes
100 %
Glycogen Storage Disease Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
6 %
Genes
100 %
Glycogenosis type 0 (sequence analysis of GYS2 gene).

By CGC Genetics in Portugal.

GYS2
Specificity
100 %
Genes
100 %
Glycogen storage disease (NGS panel for 13 genes).

By CGC Genetics in Portugal.

AGL, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2, PCK1
Specificity
8 %
Genes
100 %
Glycogen storage disease (NGS panel for 22 genes).

By CGC Genetics in Portugal.

AGL, ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, PRKAG2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Glycogen Storage Disease Type 0, Liver.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center in Netherlands.

GYS2
Specificity
100 %
Genes
100 %
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGL, ALDOA, ALDOB, PC, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PCK2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Metabolic Hypoglycemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGL, ACAT1, ALDOB, FBP1, PC, GYS2, SLC37A4, SLC16A1, ACSF3, PHKA2, PCK2, HMGCL, PYGL, G6PC, PHKG2, PGM1, PHKB, MLYCD, OXCT1, GALT , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Glycogen Storage Disease Type 0 via the Glycogen Synthase 2 ( GYS2 ) Gene.

By PreventionGenetics PreventionGenetics in United States.

GYS2
Specificity
100 %
Genes
100 %
Glycogen storage disease type 0.

By Centogene AG - the Rare Disease Company in Germany.

GYS2
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

AARS2, ACAD9, ACADL, ACADM, ACADS, ACADVL, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SLC37A4 , (...)

View the complete list with 112 more genes
Specificity
1 %
Genes
100 %
Glycogen Storage Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Invitae Liver Glycogen Storage Disease Panel.

By Invitae in United States.

AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2
Specificity
10 %
Genes
100 %
Invitae Comprehensive Glycogen Storage Disease Panel.

By Invitae in United States.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
GLYCOGEN STORAGE DISEASE.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

AGL, ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Glycogen Storage Disorders- Liver: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2
Specificity
10 %
Genes
100 %
Glycogen Storage Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, ENO3, GYS1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2, SLC2A2
Specificity
5 %
Genes
100 %
Inherited Metabolic Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, PC, GYS2, HLCS, ATPAF2, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, SLC37A4, MTRR , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
100 %
Glycogen Storage Disorders- Liver: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2
Specificity
10 %
Genes
100 %
Glycogen Storage Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGL, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, ENO3, GYS1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2, SLC2A2
Specificity
5 %
Genes
100 %
Lactic Acidosis-Pyruvate NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACAD9, YARS2, FBP1, PC, GYS2, UQCRB, ATP5F1E, ATPAF2, BCS1L, TRMU, DLD, POLG, NDUFS4, SLC25A4, FOXRED1, RRM2B, FH, COQ9, PDSS2, PDSS1 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
GYS2.

By Fulgent Genetics Fulgent Genetics in United States.

GYS2
Specificity
100 %
Genes
100 %
Glycogen Storage Disorder Panel.

By Blueprint Genetics in Finland.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel.

By Blueprint Genetics in Finland.

AGL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, GAA, HNF1A, SLC37A4, SLC16A1, GCK, ACSF3, PHKA2, HMGCL, PYGL, G6PC, PHKG2, PGM1, LDHA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
GLYCOGEN STORAGE DISEASE, TYPE 0.

By Laboratorio de Genetica Clinica SL in Spain.

GYS2
Specificity
100 %
Genes
100 %
GLYCOGEN STORAGE: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, GYG1
Specificity
6 %
Genes
100 %
Glycogen Storage Disease Type 0, Sequencing GYS2 Gene.

By Reference Laboratory Genetics in Spain.

GYS2
Specificity
100 %
Genes
100 %
Glycogen Storage Disease, Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

AGL, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PFKM, PYGM, GBE1, SLC2A2
Specificity
10 %
Genes
100 %

Alternate names

Glycogen Storage Disease 0, Liver; Gsd0a Is also known as gsd 0a, hypoglycemia with deficiency of glycogen synthetase in the liver, liver glycogen synthase deficiency, liver glycogen storage disease 0;gsd due to hepatic glycogen synthase deficiency; gsd type 0a; glycogen storage disease due to liver glycogen synthase deficiency; glycogen storage disease type 0a; glycogenosis type 0a.



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