Ontology highlight
ABSTRACT:
SUBMITTER: Krishnamurthy S
PROVIDER: S-EPMC5590421 | biostudies-literature | 2017 Sep-Oct
REPOSITORIES: biostudies-literature
Krishnamurthy S S Kartha G B GB Venkateswaran V S VS Prasannakumar M M Mahadevan S S Gowda M M Pelle A A Giachino D D
Indian journal of nephrology 20170901 5
Primary hyperoxaluria (PH) Type 1 is a rare, genetic disorder caused by deficiency of the liver enzyme alanine-glyoxylate aminotransferase, which is encoded by <i>AGXT</i> gene. We report a 2-year-old South Indian Tamil child with nephrocalcinosis due to PH Type 1, in whom a homozygous genotype for two missense mutations in the <i>AGXT</i> gene was found: first, a C to G transversion (c. 32C>G) in exon 1 resulting in the amino acid substitution p.Pro11Arg; second, a T to A transversion (c. 167T> ...[more]