Description:
GLYCOGEN STORAGE DISEASE II
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| 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; 0% activity. |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 1 |
; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
IVS1-3C>A |
| |
| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 2 |
606800.0014; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
1-BP DEL, 525T; In a girl with the juvenile form of Pompe disease (232300), Hermans et al. (1994) identified compound heterozygosity for 2 mutations in the GAA gene: P545L (606800.0013) and a 1-bp deletion (525delT), resulting in premature termination of the protein at nucleotide positions 658 to 660. |
| Remarks |
Clinically affected; absent acid-alpha-1,4 glucosidase activity; donor subject is a compound heterozygote: one allele has a C>A transversion at position -3 of the acceptor site of intron 1 of the GAA gene (c.-32-3C>A); the second allele has a 1 bp deletion at nucleotide 525 in exon 2 (c.525delT) resulting in a frameshift and premature termination of the protein [Glu176fsX45) |
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