Primær hyperoxaluri type 1 påvist ved leverbiopsi

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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.

OriginalsprogDansk
TidsskriftUgeskrift for laeger
Vol/bind161
Udgave nummer11
Sider (fra-til)1601-1602
Antal sider2
ISSN0041-5782
StatusUdgivet - 15 mar. 1999
Udgivet eksterntJa

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