Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney disease

Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney disease

Primary hyperoxaluria type 1 is an autosomal recessive inborn error of metabolism due to liver-specific peroxisomal enzyme alanine-glyoxylate transaminase deficiency. Here, we describe two unrelated patients who were diagnosed to have primary hyperoxaluria. Homozygous c.445_452delGTGCTGCT (p.L151Nfs...

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Bibliographic Details
Main Authors: A K Dutta, B K Paulose, S Danda, S Alexander, V Tamilarasi, S Omprakash
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2016-01-01
Series:Indian Journal of Nephrology
Subjects:
Alanine-glyoxylate transaminase
chronic
India
nephrolithiasis
primary hyperoxaluria type 1
renal insufficiency
Online Access:http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2016;volume=26;issue=4;spage=288;epage=290;aulast=Dutta

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http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2016;volume=26;issue=4;spage=288;epage=290;aulast=Dutta

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