Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis
Background: Childhood nephrolithiasis cases reported worldwide has been increasing over the last decade. The majority of cases reported are related to calcium oxalate formation which results in impairment of glycine transport in the renal tubule leading to hyperglycinuria and impaired urinary oxalat...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2019-06-01
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| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=17746 |
| _version_ | 1797816680472117248 |
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| author | Maha Al Harbi Fuad Al Mutairi |
| author_facet | Maha Al Harbi Fuad Al Mutairi |
| author_sort | Maha Al Harbi |
| collection | DOAJ |
| description | Background: Childhood nephrolithiasis cases reported worldwide has been increasing over the last decade. The majority of cases reported are related to calcium oxalate formation which results in impairment of glycine transport in the renal tubule leading to hyperglycinuria and impaired urinary oxalate excretion with resultant nephrolithiasis.
Case presentation: A 4-year-old boy was presented with oxalate nephrolithiasis and hyperglycinuria. Molecular testing confirmed a c.448G>A p. (Val150Met) mutation of heterozygous status in SLC36A2 gene.
Conclusion: The likelihood of cases being reported with renal hyperglycinuria along with oxalate nephrolithiasis is very rare. The present study reports a patient presented with oxalate nephrolithiasis, hyperglycinuria and a molecular confirmation for a heterozygous c.448G>A p. (Val150Met) mutation in SLC36A2 gene. [JBCGenetics 2019; 2(1.000): 74-76] |
| first_indexed | 2024-03-13T08:41:17Z |
| format | Article |
| id | doaj.art-a1ae290b65f548c7b20571a8ceec5a07 |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:41:17Z |
| publishDate | 2019-06-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-a1ae290b65f548c7b20571a8ceec5a072023-05-30T11:42:44ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2019-06-0121747610.24911/JBCGenetics/183-154254090217746Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasisMaha Al Harbi0Fuad Al Mutairi1Medical Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia Nephrology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi ArabiaBackground: Childhood nephrolithiasis cases reported worldwide has been increasing over the last decade. The majority of cases reported are related to calcium oxalate formation which results in impairment of glycine transport in the renal tubule leading to hyperglycinuria and impaired urinary oxalate excretion with resultant nephrolithiasis. Case presentation: A 4-year-old boy was presented with oxalate nephrolithiasis and hyperglycinuria. Molecular testing confirmed a c.448G>A p. (Val150Met) mutation of heterozygous status in SLC36A2 gene. Conclusion: The likelihood of cases being reported with renal hyperglycinuria along with oxalate nephrolithiasis is very rare. The present study reports a patient presented with oxalate nephrolithiasis, hyperglycinuria and a molecular confirmation for a heterozygous c.448G>A p. (Val150Met) mutation in SLC36A2 gene. [JBCGenetics 2019; 2(1.000): 74-76]http://www.ejmanager.com/fulltextpdf.php?mno=17746childrencase reporthyperglycinurianephrolithiasisoxalate stoneslc36a2 |
| spellingShingle | Maha Al Harbi Fuad Al Mutairi Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis Journal of Biochemical and Clinical Genetics children case report hyperglycinuria nephrolithiasis oxalate stone slc36a2 |
| title | Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis |
| title_full | Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis |
| title_fullStr | Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis |
| title_full_unstemmed | Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis |
| title_short | Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis |
| title_sort | heterozygous mutation in slc36a2 gene causing hyperglycinuria and nephrolithiasis |
| topic | children case report hyperglycinuria nephrolithiasis oxalate stone slc36a2 |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=17746 |
| work_keys_str_mv | AT mahaalharbi heterozygousmutationinslc36a2genecausinghyperglycinuriaandnephrolithiasis AT fuadalmutairi heterozygousmutationinslc36a2genecausinghyperglycinuriaandnephrolithiasis |