GM13963
LCL from B-Lymphocyte
Description:
GLYCOGEN STORAGE DISEASE II
GLUCOSIDASE, ALPHA, ACID; GAA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
PAKISTANI
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization - other
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| alpha-glucosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.20; 1% activity. |
| |
| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 1 |
606800.0015; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
ARG854TER; Becker et al. [Am. J. Hum. Genet. 62: 991-994 (1998)] found a high frequency of the arg854-to-ter mutation of the GAA gene in compound heterozygous or homozygous state in cases of glycogen storage disease II (232300) in various African populations and in African-American patients. |
| |
| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 2 |
606800.0015; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
ARG854TER; Becker et al. [Am. J. Hum. Genet. 62: 991-994 (1998)] found a high frequency of the arg854-to-ter mutation of the GAA gene in compound heterozygous or homozygous state in cases of glycogen storage disease II (232300) in various African populations and in African-American patients. |
| Remarks |
Clinically affected; onset of symptoms at 3.5 months of age; diagnosis at 4 ½ months of age; died at 4 ½ months of age; difficulty breathing; cough; poor appetite and failure to thrive (<10th percentile head circumference, 25th percentile height and weight) ; hypotonia (unable to hold head or roll over); hyperreflexia; cardiomyopathy (echocardiogram revealed concentric hypertrophy of the posterior wall of the left ventricle and septum; no left ventricular outlet obstruction); 1% of normal alpha-D-glucosidase activity; cross-reactive immunological material (CRIM)-negative status confirmed by Western blot and GAA sequencing analyses (homozygous for p.Arg854X)(PMID:24044919); treatments include Captopril, Lasix, and percutaneous endoscopic gastrostomy; family history: parents are first cousins; donor subject had three unaffected siblings and one affected sibling (died at 4 months of age; cardiomegaly; cystic hygroma; elevated lactate, pyruvate and ammonia; muscle biopsy showed lysosomal glycogen inclusion consistent with Pompe disease). |
| Z. Wang, et al, A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. Mol Genet Metab. 2013 Aug 29. pii: S1096-7192(13)00300-4. doi: 10.1016/j.ymgme.2013.08.010. [Epub ahead of print]: 2013 |
| PubMed ID: 24044919 |
| |
| MM Hermans, et al, Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II. Biochem Biophys Res Commun. 1991 Sep 16;179(2):919-26.: 1991 |
| PubMed ID: 1898413 |
| dbSNP |
dbSNP ID: 22877 |
| Gene Cards |
GAA |
| Gene Ontology |
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds |
|
GO:0004558 alpha-glucosidase activity |
|
GO:0005764 lysosome |
|
GO:0005975 carbohydrate metabolism |
|
GO:0005980 glycogen catabolism |
|
GO:0006091 energy pathways |
| NCBI Gene |
Gene ID:2548 |
| NCBI GTR |
232300 GLYCOGEN STORAGE DISEASE II; GSD2 |
|
606800 GLUCOSIDASE, ALPHA, ACID; GAA |
| OMIM |
232300 GLYCOGEN STORAGE DISEASE II; GSD2 |
|
606800 GLUCOSIDASE, ALPHA, ACID; GAA |
| Omim Description |
ACID MALTASE DEFICIENCY; AMD |
| |
ALPHA-1,4-GLUCOSIDASE DEFICIENCYGLUCOSIDASE, ALPHA, ACID, INCLUDED; GAA, INCLUDED |
| |
CARDIAC FORM OF GENERALIZED GLYCOGENOSIS |
| |
CARDIOMEGALIA GLYCOGENICA DIFFUSA |
| |
GLUCOSIDASE, ACID, ALPHA DEFICIENCY; GAA DEFICIENCY |
| |
GLYCOGEN STORAGE DISEASE II |
| |
POMPE DISEASE |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|