Case Report

Volume: 2 | Issue: 1 | Published: Jan 01, 2019 | Pages: 74 - 76 | DOI: 10.24911/JBCGenetics/183-1542540902

Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis

Authors: MahaAl Harbi , Fuad Al Mutairi

Article Info

Authors

MahaAl Harbi

Medical Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia

Fuad Al Mutairi

Nephrology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia

Publication History

Received: July 04, 2018

Revised: April 03, 2019

Accepted: May 03, 2019

Published: January 01, 2019

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.

Keywords: Children, case report, hyperglycinuria, nephrolithiasis, oxalate stone, SLC36A2

Open access Creative Commons License

Pubmed Style

MahaAl Harbi, Fuad Al Mutairi. Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis. JBC Genetics. 2019; 01 (January 2019): 74-76. doi:10.24911/JBCGenetics/183-1542540902

Web Style

MahaAl Harbi, Fuad Al Mutairi. Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis. https://www.jbcgenetics.com/articles/2173 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1542540902

AMA (American Medical Association) Style

MahaAl Harbi, Fuad Al Mutairi. Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis. JBC Genetics. 2019; 01 (January 2019): 74-76. doi:10.24911/JBCGenetics/183-1542540902

Vancouver/ICMJE Style

MahaAl Harbi, Fuad Al Mutairi. Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis. JBC Genetics. (2019), [cited April 27, 2025]; 01 (January 2019): 74-76. doi:10.24911/JBCGenetics/183-1542540902

Harvard Style

MahaAl Harbi, Fuad Al Mutairi (2019) Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis. JBC Genetics, 01 (January 2019): 74-76. doi:10.24911/JBCGenetics/183-1542540902

Chicago Style

MahaAl Harbi, Fuad Al Mutairi. "Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis." 01 (2019), 74-76. doi:10.24911/JBCGenetics/183-1542540902

MLA (The Modern Language Association) Style

MahaAl Harbi, Fuad Al Mutairi. "Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis." 01.January 2019 (2019), 74-76. Print. doi:10.24911/JBCGenetics/183-1542540902

APA (American Psychological Association) Style

MahaAl Harbi, Fuad Al Mutairi (2019) Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis. , 01 (January 2019), 74-76. doi:10.24911/JBCGenetics/183-1542540902