title: [Primary hyperoxaluria type 1 detected by liver biopsy].
abstract: 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.
authors: Medicinsk afdeling C, Aalborg Sygehus.
authors: E H
authors: EH
authors: Nielsen
authors: M T
authors: MT
authors: Severinsen
authors: P
authors: P
authors: Jensen
authors: T
authors: T
authors: Ring
mesh_terms: 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