A homozygous missense variation in exon 6 of the GRHPR gene (chr9:37 429 729 G>A) was identified in a 4-year-old female patient that substitutes glycine for aspartate at codon 165 (p.Gly165Asp) lead to hyperoxaluria primary type II (OMIM#260 000). This evidence concerns the gene GRHPR and primary hyperoxaluria type 2.