Description:
PYROGLUTAMICACIDURIA
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Disorders of Amino Acid Metabolism |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
2
|
Relation to Proband
|
brother
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
11 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
glutathione synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 6.3.2.3 |
|
Remark |
Metabolic acidosis; hemolytic anemia; fibroblasts deficient in glutathione synthetase activity |
Shi ZZ, Habib GM, Rhead WJ, Gahl WA, He X, Sazer S, Lieberman MW, Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nat Genet14(3):361-5 1996 |
PubMed ID: 8896573 |
|
Poot M, Verkerk A, Koster JF, Jongkind JF, De novo synthesis of glutathione in human fibroblasts during in vitro ageing and in some metabolic diseases as measured by a flow cytometric method. Biochim Biophys Acta883:580-4 1986 |
PubMed ID: 3756223 |
|
Parshad R, Gantt R, Sanford KK, Jones GM, Chromosomal radiosensitivity of human tumor cells during the G2 cell cycle period. Cancer Res44:5577-82 1984 |
PubMed ID: 6498819 |
|
Wellner VP, Anderson ME, Puri RN, Jensen GL, Meister A, Radioprotection by glutathione ester: transport of glutathione ester into human lymphoid cells and fibroblasts. Proc Natl Acad Sci U S A81:4732-5 1984 |
PubMed ID: 6146978 |
|
Spielberg SP, Kramer LI, Goodman SI, Butler J, Tietze F, Quinn P, Schulman JD, 5-oxoprolinuria: biochemical observations and case report. J Pediatr91:237-41 1977 |
PubMed ID: 874680 |
Passage Frozen |
11 |
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 |
Serum |
15% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
|
|