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4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3
James J Pitt1, Frank Willis, Nicholas Tzanakos
1Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia, james.pitt@vcgs.org.au.
JIMD Reports
|February 25, 2014
Summary
Primary hyperoxaluria type 3 (PH3) is a metabolic disorder causing kidney stones. Measuring 4-hydroxyglutamate (4OHGlu) in urine offers a new biochemical screening method for PH3, aiding in early diagnosis.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Primary hyperoxaluria type 3 (PH3) is a genetic disorder affecting 4-hydroxyproline metabolism.
- Current PH3 diagnosis relies on genetic mutation detection.
- PH3 leads to kidney stone disease due to altered metabolism.
Purpose of the Study:
- To investigate 4-hydroxyglutamate (4OHGlu) excretion as a biomarker for PH3.
- To establish a biochemical screening method for PH3.
- To assess the utility of 4OHGlu measurement in diagnosing PH3.
Main Methods:
- Flow injection tandem mass spectrometry was used to measure urinary 4OHGlu levels.
- 4OHGlu levels were analyzed in PH3 patients, their parents, and healthy controls.
- Age-specific reference ranges for 4OHGlu were established.
Main Results:
- Urinary 4OHGlu levels were significantly elevated in PH3 patients compared to controls.
- Carrier parents showed moderately increased 4OHGlu levels.
- 4OHGlu measurement successfully diagnosed PH3 prospectively in an infant and was detected in a newborn blood spot.
Conclusions:
- Urinary 4-hydroxyglutamate (4OHGlu) is a reliable biomarker for Primary hyperoxaluria type 3 (PH3).
- 4OHGlu testing provides a robust, high-throughput biochemical screen for PH3.
- This method facilitates early diagnosis and management of PH3-related kidney stone disease.
