Description:
OXALOSIS TYPES I OR II, GLYCOLIC OR GLYCERIC ACIDURIA - 259900 OR 260000
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
Other
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization - other
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Japanese/Caucasian; urine metabolic screening by GC/MS showed elevated lactic & oxalic acid, presence of glycolic acid, & absence of glyceric acid; pt received liver & kidney transplant at age 1 yr; parents are GM13780 & GM13787 |
| Bunchman TE, Majors H, Majors G, Gardner JJ, DeVee J, Dennerll EM, Hesford JL, Mitchell CL, Punch JD, The infant with primary hyperoxaluria and oxalosis: from diagnosis to multiorgan transplantation. Adv Ren Replace Ther3:315-25 1996 |
| PubMed ID: 8914696 |
|