NA17491
DNA from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE IIIA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Ethnicity
|
ITALIAN/IRISH
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
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 |
| |
| N-sulfoglucosamine sulfohydrolase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.10.1.1; 3.7% activity. |
| |
| Remarks |
Clinically affected; abnormal heparin sulfamidase activity in fibroblasts (190 - normal control is 5200); hepatosplenomegaly; hearing loss; developmental delay; coarse facies; thick coarse hair; prominent lower lip; prominent metopic suture; synophrys; hirsuit |
|
|