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.
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