Primær hyperoxaluri type 1 påvist ved leverbiopsi

Eigil Husted Nielsen; Marianne Tang Severinsen; Paw Jensen; Troels Ring

Primær hyperoxaluri type 1 påvist ved leverbiopsi

Eigil Husted Nielsen^*, Marianne Tang Severinsen, Paw Jensen, Troels Ring

^*Corresponding author for this work

Research output: Contribution to journal › Journal article › Research › peer-review

1 Citation (Scopus)

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.

Original language	Danish
Journal	Ugeskrift for laeger
Volume	161
Issue number	11
Pages (from-to)	1601-1602
Number of pages	2
ISSN	0041-5782
Publication status	Published - 15 Mar 1999
Externally published	Yes

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title = "Prim{\ae}r hyperoxaluri type 1 p{\aa}vist ved leverbiopsi",

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.",

author = "Nielsen, {Eigil Husted} and Severinsen, {Marianne Tang} and Paw Jensen and Troels Ring",

year = "1999",

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T1 - Primær hyperoxaluri type 1 påvist ved leverbiopsi

AU - Nielsen, Eigil Husted

AU - Severinsen, Marianne Tang

AU - Jensen, Paw

AU - Ring, Troels

PY - 1999/3/15

Y1 - 1999/3/15

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0033558581&partnerID=8YFLogxK

M3 - Tidsskriftartikel

C2 - 10202444

AN - SCOPUS:0033558581

SN - 0041-5782

VL - 161

SP - 1601

EP - 1602

JO - Ugeskrift for laeger

JF - Ugeskrift for laeger

IS - 11

ER -

Primær hyperoxaluri type 1 påvist ved leverbiopsi

Abstract

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