Description:
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Disorders of the Urea Cycle |
| 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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White
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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 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| carbamoyl-phosphate synthetase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 6.3.4.16 |
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| Remarks |
Onset of lethargy & vomiting at age 3 weeks; severe mental retardation; growth retardation; CPS deficiency confirmed by liver biopsy |
| Batshaw M, Brusilow S, Walser M, Treatment of carbamyl phosphate synthetase deficiency with keto analogues of essential amino acids. N Engl J Med292:1085-90 1975 |
| PubMed ID: 165404 |
| 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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