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Primary hyperoxaluria type 1 with a novel mutation

✍ Scribed by Sidharth Kumar Sethi; Hans R. Waterham; Sonika Sharma; Alok Sharma; Pankaj Hari; Arvind Bagga


Book ID
107598340
Publisher
Springer-Verlag
Year
2008
Tongue
English
Weight
299 KB
Volume
76
Category
Article
ISSN
0019-5456

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Primary hyperoxaluria type 1 (PH1) is an autosomal recessive, inherited disorder of glyoxylate metabolism arising from a deficiency of the alanine:glyoxylate aminotransferase (AGT) enzyme, encoded by the AGXT gene. The disease is manifested by excessive endogenous oxalate production, which leads to