Description:
TYROSINE TRANSAMINASE DEFICIENCY
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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 |
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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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Race
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American Indian/Alaska Native
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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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| Passage Frozen |
12 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| tyrosine transaminase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.6.1.5 |
| |
| Remarks |
Seizures; mental retardation; normal fibroblast p-hydroxyphenylpyruvic hydroxylase activity; deficient cytosolic tyrosine aminotransferase activity |
| deGroot GW, Dakshinamurti K, Allan L, Haworth JC, Defect in soluble tyrosine aminotransferase in skin fibroblasts of a patient with tyrosinemia. Pediatr Res14:896-8 1980 |
| PubMed ID: 6106182 |
| Passage Frozen |
12 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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