E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report

Online Publishing Date:
01 / 01 / 2019

 


Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis

Maha Al Harbi, Fuad Al Mutairi.


Abstract
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.

Key words: Children, case report, hyperglycinuria, nephrolithiasis, oxalate stone, SLC36A2


 
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Pubmed Style

Harbi MA, Mutairi FA, . Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis. JBCGenetics. 2019; 2(1): 74-76. doi:10.24911/JBCGenetics/183-1542540902


Web Style

Harbi MA, Mutairi FA, . Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis. https://www.jbcgenetics.com/?mno=17746 [Access: March 13, 2024]. doi:10.24911/JBCGenetics/183-1542540902


AMA (American Medical Association) Style

Harbi MA, Mutairi FA, . Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis. JBCGenetics. 2019; 2(1): 74-76. doi:10.24911/JBCGenetics/183-1542540902



Vancouver/ICMJE Style

Harbi MA, Mutairi FA, . Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis. JBCGenetics. (2019), [cited March 13, 2024]; 2(1): 74-76. doi:10.24911/JBCGenetics/183-1542540902



Harvard Style

Harbi, M. . A., Mutairi, F. . . A. & (2019) Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis. JBCGenetics, 2 (1), 74-76. doi:10.24911/JBCGenetics/183-1542540902



Turabian Style

Harbi, Maha Al, Fuad Al Mutairi, and . 2019. Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis. Journal of Biochemical and Clinical Genetics, 2 (1), 74-76. doi:10.24911/JBCGenetics/183-1542540902



Chicago Style

Harbi, Maha Al, Fuad Al Mutairi, and . "Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis." Journal of Biochemical and Clinical Genetics 2 (2019), 74-76. doi:10.24911/JBCGenetics/183-1542540902



MLA (The Modern Language Association) Style

Harbi, Maha Al, Fuad Al Mutairi, and . "Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis." Journal of Biochemical and Clinical Genetics 2.1 (2019), 74-76. Print. doi:10.24911/JBCGenetics/183-1542540902



APA (American Psychological Association) Style

Harbi, M. . A., Mutairi, F. . . A. & (2019) Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis. Journal of Biochemical and Clinical Genetics, 2 (1), 74-76. doi:10.24911/JBCGenetics/183-1542540902





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