[Primary hyperoxaluria type 1 detected by liver biopsy].
PH1 is caused by deficiency of the liver-specific peroxisomal enzyme alanine: glycoxylate 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.
Nielsen
E H
EH
Medicinsk afdeling C, Aalborg Sygehus.
Severinsen
M T
MT
Jensen
P
P
Ring
T
T
D000328:Adult; D004252:DNA Mutational Analysis; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D008099:Liver / Q000201:enzymology / Q000473:pathology*; D008297:Male; D008862:Microsomes, Liver / Q000201:enzymology / Q000648:ultrastructure