Description:
PROPIONIC ACIDEMIA
|
Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
|
Cell Type
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Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
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
|
Human
|
|
Remarks
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|
| Passage Frozen |
14 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| propionyl-CoA carboxylase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 6.4.1.3 |
| |
| Remarks |
Deficient Propionyl CoA carboxylase activity; affected brother died at age 7; patient had neonatal vomiting and ketoacidosis; at age 6, shows normal growth and development despite intermittent hyperglycinuria and hyperglycinemia |
| Hsia YE, Scully KJ, Rosenberg LE, Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia". J Clin Invest50:127-30 1971 |
| PubMed ID: 5101292 |
| Passage Frozen |
14 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
- |
|
|