Description:
SANDHOFF DISEASE
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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 Lipid 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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Family Member
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1
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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 |
| |
| beta-N-acetylhexosaminidase (hexosaminidase) |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.52; 0% activity. |
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| beta-N-acetylhexosaminidase (hexosaminidase) |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.52; 8% activity. |
| |
| Remarks |
Juvenile variant; at age 4 noted to be clumsy, behind in gross motor skills, and spastic; at age 7.5 showed loss of intellectual skills, weight loss, and cerebellar degeneration; 8% of normal hexosaminidase activity in leukocytes and no detectable activity in plasma |
| dbSNP |
dbSNP ID: 23205 |
| NCBI GTR |
268800 SANDHOFF DISEASE |
| OMIM |
268800 SANDHOFF DISEASE |
| Omim Description |
GM2-GANGLIOSIDOSIS, TYPE II |
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HEXOSAMINIDASES A AND B DEFICIENCY; HEXB-HEXOSAMINIDASE B, INCLUDED; HEXB, INCLUDED |
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SANDHOFF DISEASE |
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SANDHOFF DISEASE, ADULT TYPE, INCLUDED |
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SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED |
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SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED |
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