| CASE REPORT |
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| Year : 2017 | Volume
: 27
| Issue : 5 | Page : 402-405 |
Primary hyperoxaluria Type 1 with homozygosity for a double-mutated AGXT allele in a 2-year-old child
S Krishnamurthy1, GB Kartha1, VS Venkateswaran1, M Prasannakumar1, S Mahadevan1, M Gowda2, A Pelle3, D Giachino3
1 Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India
2 Department of Obstetrics and Gynecology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India
3 Department of Clinical and Biological Sciences, University of Torino, San Luigi University Hospital, Orbassano, Torino, Italy
Correspondence Address:
S Krishnamurthy
Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry - 605 006
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ijn.IJN_261_16
Primary hyperoxaluria (PH) Type 1 is a rare, genetic disorder caused by deficiency of the liver enzyme alanine-glyoxylate aminotransferase, which is encoded by AGXT 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 AGXT 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>A) in exon 2 resulting in p.Ile56Asn. A therapy based on potassium citrate and pyridoxine was started. This is the first report of molecular testing-proven childhood onset-PH Type 1 from South India and is notable for the co-occurrence of two missense mutations in one AGXT allele, which might lead to different and more severe phenotype than each mutation alone. To the best of our knowledge, AGXT allele carrying two already known mutations has not been previously reported.
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