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Article

The SLC6A19 gene mutation in a young man with hyperglycinuria and nephrolithiasis: a case report and literature review.

BMC urology - 24 Nov 2022

Pan Yang, Wang Shangren, Liu Li, Liu Xiaoqiang

Abstract excerpt

BACKGROUND: Hyperglycinuria is a rare disorder, with few reported cases, caused by either a defect in glycine metabolism or a disturbance in renal glycine reabsorption. Genetic findings of hyperglycinuria are rare and have not previously been reported in Chinese young men. CASE PRESENTATION: A 24-year-old man presented with a compliant of bilateral lumbago for 1 month. Abdominal computed tomography revealed...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36434624
DOI: 10.1186/s12894-022-01147-9
PMCID: PMC9700881

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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