Ontology highlight
ABSTRACT:
SUBMITTER: Dutta AK
PROVIDER: S-EPMC4964691 | biostudies-literature | 2016 Jul-Aug
REPOSITORIES: biostudies-literature
Dutta A K AK Paulose B K BK Danda S S Alexander S S Tamilarasi V V Omprakash S S
Indian journal of nephrology 20160701 4
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*14) (Transcript ID: ENST00000307503; human genome assembly GRCh38.p2) (HGMD ID CD073567) mutation was detected in both the patients and the parents were found to be heterozygous carriers. Our patient ...[more]