Glycogen storage disease due to hepatic glycogen synthase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: LIVER GLYCOGEN STORAGE DISEASE 0
LIVER GLYCOGEN SYNTHASE DEFICIENCY
HYPOGLYCEMIA WITH DEFICIENCY OF GLYCOGEN SYNTHETASE IN THE LIVER
GSD 0a
Glycogen storage disease type 0a
GSD due to hepatic glycogen synthase deficiency
GSD type 0a
Glycogenosis type 0a
Glycogen storage disease due to liver glycogen synthase deficiency
GSD0a
Number of Symptoms 12
OrphanetNr: 2089
OMIM Id: 240600
ICD-10: E74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 30 cases - PMID: 26937415 [IBIS]
Inheritance: Autosomal recessive
- PMID: 16337419 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Glycogen storage disease due to glycogen synthase deficiency
 -Rare genetic disease

Comment:

The postprandial hyperglycemia and fasting ketonuria characteristic of this disorder may be confused with early diabetes mellitus (PMID:16337419).

Symptom Information: Sort by abundance 

1
 (HPO:0000938) Osteopenia 16337419 IBIS 138 / 7739
2
 (HPO:0002910) Elevated hepatic transaminases 16337419 IBIS 158 / 7739
3
 (HPO:0001508) Failure to thrive 16337419 IBIS 454 / 7739
4
 (HPO:0004322) Short stature 16337419 IBIS 1232 / 7739
5
 (HPO:0003077) Hyperlipidemia 16337419 IBIS 37 / 7739
6
 (HPO:0001250) Seizures 16337419 IBIS 1245 / 7739
7
 (HPO:0003162) Fasting hypoglycemia 16337419 IBIS 8 / 7739
8
 (HPO:0002151) Increased serum lactate 16337419 IBIS 92 / 7739
9
 (HPO:0011997) Postprandial hyperlactemia 16337419 IBIS 1 / 7739
10
 (HPO:0011998) Postprandial hyperglycemia 16337419 IBIS 5 / 7739
11
 (HPO:0001946) Ketosis 16337419 IBIS 17 / 7739
12
 (OMIM) Glycogen synthetase deficiency 16337419 IBIS 1 / 7739

Associated genes:

GYS2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a well-studied family, Lewis et al. (1963) demonstrated that infantile hypoglycemia was due to a deficiency of glycogen synthetase in the liver. The cases were probably of the same type as those reported by Broberger and Zetterstrom ...
Molecular genetics OMIM Orho et al. (1998) identified mutations in the GYS2 gene (138571.0001-138571.0008) in affected members of 5 families with GSD-0.