Description:
OXALOSIS TYPES I OR II, GLYCOLIC OR GLYCERIC ACIDURIA - 259900 OR 260000
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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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Other
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Biochemical characterization - other
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| 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 |
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