Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis

Maha Al Harbi; Fuad  Al Mutairi

doi:10.24911/JBCGenetics/183-1542540902

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Case Report
Online Published: 01 Jan 2019

JBCGenetics. 2019; 2(1): 74-76

doi: 10.24911/JBCGenetics/183-1542540902

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: November 14, 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 November 14, 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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