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Hyperglycinuria with nephrolithiasis.

V Oberiter, Z Puretić, V Fabecić-Sabadi

European Journal of Pediatrics

|April 20, 1978

Summary

This summary is machine-generated.

A child with hyperglycinuria (excess glycine in urine) and calcium oxalate stones had normal blood amino acids. This case suggests a potential link between glycine metabolism and kidney stone formation.

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Area of Science:

Biochemistry
Nephrology
Metabolic Disorders

Background:

Hyperglycinuria, characterized by elevated urinary glycine, is a rare metabolic condition.
Nephrolithiasis, or kidney stones, can arise from various metabolic and genetic factors.
The metabolic interplay between amino acids and stone formation is an area of ongoing research.

Observation:

A case study of a 7.5-year-old girl presenting with significant hyperglycinuria (400 mg/24 h) and oxalate nephrolithiasis is described.
The patient exhibited a normal plasma amino acid profile, distinguishing it from other forms of hyperglycinemia.
The kidney stone was identified as calcium oxalate dihydrate.

Findings:

The study quantifies the degree of hyperglycinuria in the patient.

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It highlights the co-occurrence of hyperglycinuria and calcium oxalate stones in the absence of hyperaminoacidemia.

The metabolic relationship between glycine and oxalate in the context of nephrolithiasis is explored.

Implications:

This case raises questions about a potential in vivo metabolic link between glycine and oxalate, contributing to kidney stone formation.
While the association may be coincidental, it warrants further investigation, especially in light of familial cases.
Understanding this relationship could inform diagnostic and therapeutic strategies for specific types of nephrolithiasis.