NA00342
DNA from Fibroblast
Description:
HOMOCYSTINURIA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
|
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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|
| Passage Frozen |
3 |
| |
| cystathionine gamma-synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.5.1.48 |
| |
| Remarks |
Excessive urinary homocystine; low IQ; bone pain; seizures; ectopic lens; osteoporosis; spinal compression fractures; B6 responsive; deficient cystathionine synthetase activity |
| Morrow G 3d, Barness LA, Combined vitamin responsiveness in homocystinuria. J Pediatr81:946-54 1972 |
| PubMed ID: 5086722 |
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