Description:
PYRUVATE CARBOXYLASE 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 Carbohydrate 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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White
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Ethnicity
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MEXICAN-AMERICAN
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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 |
5 |
| |
| pyruvate carboxylase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 6.4.1.1; 0% activity. |
| |
| Remarks |
No detectable pyruvate carboxylase activity in fibroblasts; normal propionyl CoA carboxylase activity; severe lactic acidosis & failure to thrive |
| Oizumi J, Donnell GN, Ng WG, Mulivor RA, Greene AE, Coriell LL, Congenital lactic acidosis associated with pyruvate carboxylase deficiency. Repository identification No. GM6056. Cytogenet Cell Genet38:80 1984 |
| PubMed ID: 6705569 |
| |
| Oizumi J, Shaw KN, Giudici TA, Carter M, Donnell GN, Ng WG, Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria. J Inherit Metab Dis6:89-94 1983 |
| PubMed ID: 6422151 |
| Passage Frozen |
5 |
| Split Ratio |
1:4 |
| 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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