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Hyperglycinuria: diagnosis in middle age.

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Summary
This summary is machine-generated.

Isolated hyperglycinuria, a rare kidney disorder, can cause bone loss and kidney stones. This case highlights a patient with these symptoms, possibly linked to topiramate use, despite normal genetic tests.

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Area of Science:

  • Nephrology
  • Metabolic Disorders
  • Genetics

Background:

  • Isolated hyperglycinuria is a rare genetic disorder.
  • It is characterized by excessive glycine excretion in urine.
  • Associated complications include osteoporosis and renal calculi.

Observation:

  • A middle-aged Black woman presented with renal dysfunction.
  • She had a history of transient hypobicarbonatemia linked to topiramate therapy.
  • The patient exhibited high urinary glycine, early-onset osteopenia, and renal calculus.

Findings:

  • The patient presented with the full triad of high urinary glycine, osteopenia, and renal calculus.
  • Elevated urinary oxalate, phosphate, and uric acid were also noted.
  • Genetic testing for known glycinuria genes (SLC6A20, SLC6A18, SLC6A19, SLC36A2) was negative.

Implications:

  • The findings suggest a potential link between topiramate and proximal tubule dysfunction.
  • Unidentified genetic mutations may cause glycinuria, particularly in underrepresented populations.
  • Further research is needed to explore the genetic basis and drug-induced effects of hyperglycinuria.