Description:
CARNOSINEMIA
|
Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Family Member
|
1
|
|
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 Isoenzyme Electrophoresis |
| |
| Xaa-His dipeptidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.4.13.3; 14% activity. |
| |
| Remarks |
46,XY; 14% of normal plasma Carnosinase activity; profound mental retardation; severe athetoid spastic quadriparesis; optic atrophy; sensory peripheral neuropathy |
| Fleisher LD, Rassin DK, Wisniewski K, Salwen HR, Carnosinase deficiency: a new variant with high residual activity. Pediatr Res14:269-71 1980 |
| PubMed ID: 7375183 |
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