Primary Hyperoxaluria: Long-Term Outcome in Patients Treated with Orthophosphate and Pyridoxine
| Autor: | D. S. Milliner, L. H. Smith |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
chemistry.chemical_classification
Alanine medicine.medical_specialty business.industry Calcium oxalate Dehydrogenase Mitochondrion Peroxisome urologic and male genital diseases medicine.disease Pyridoxine female genital diseases and pregnancy complications Primary hyperoxaluria chemistry.chemical_compound Enzyme Endocrinology chemistry Internal medicine medicine business medicine.drug |
| Zdroj: | Urolithiasis 2 ISBN: 9781461360919 |
| DOI: | 10.1007/978-1-4615-2556-1_226 |
| Popis: | Primary hyperoxaluria is a rare, autosomal recessive disorder. Although recognized earlier, it was not until the early 1950s that sufficient numbers of cases were described to permit its identification as a distinct clinical entity. During the decades since, two subtypes have been recognized. Type I primary hyperoxaluria is secondary to a deficiency of alanine: glyoxylate aminotransferase (AGT). There may be partial or complete absence of enzyme, deficiency of enzymatically active AGT protein, or mistargeting of the enzyme from peroxisomes to mitochondria where it is ineffective1. Type II primary hyperoxaluria is due to a deficiency of D-glyceric dehydrogenase. To date, only 16 patients with type II primary hyperoxaluria have been described in the literature. In both type I and type II, the result of the hepatic enzyme deficiency is a marked increase in oxalate production. |
| Databáze: | OpenAIRE |
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