Abstract
PH1 is caused by deficiency of the liver-specific peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT). Early onset with progressive renal failure and systemic oxalosis is typical. We report a case of a 42 year-old man with PH1 in whom liver biopsy and DNA-analysis showed reduced AGT-activity and homozygosity for the polymorphism C154T and the point mutation G630A. The patient seems to respond to pyridoxine treatment. We suggest that clinical suspicion of PH1 be pursued with a diagnostic liver biopsy.
Originalsprog | Dansk |
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Tidsskrift | Ugeskrift for laeger |
Vol/bind | 161 |
Udgave nummer | 11 |
Sider (fra-til) | 1601-1602 |
Antal sider | 2 |
ISSN | 0041-5782 |
Status | Udgivet - 15 mar. 1999 |
Udgivet eksternt | Ja |