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Screening for mucopolysaccharide disorders with the Berry spot test
1Children's Hospital Medical Center, Cincinnati, Ohio 45229.
Clinical Biochemistry
|October 1, 1987
Summary
The Berry spot test effectively screens for mucopolysaccharidoses (MPS) disorders using urine analysis. This method identifies biochemical defects, aiding in the diagnosis of inherited MPS diseases.
Area of Science:
- Biochemistry
- Genetics
- Medical Diagnostics
Background:
- The Berry spot test is a common screening tool for inherited mucopolysaccharidoses (MPS) disorders.
- It utilizes metachromatic staining of urinary acid mucopolysaccharides (MPS).
- Over 6000 specimens were analyzed over five years during routine metabolic screening.
Purpose of the Study:
- To evaluate the effectiveness of the Berry spot test in screening for MPS disorders.
- To characterize the biochemical defects identified by the test.
- To assess the utility of urine testing in differential diagnosis of MPS.
Main Methods:
- Urine specimens were applied to filter paper and stained with toluidine blue.
- Positive tests underwent quantitative hexuronic acid measurement using the Dische carbazole reaction.
- Molecular species were identified via electrophoresis and alcian blue staining.
Main Results:
- Over 90% of specimens showed no metachromasia, indicating a negative result.
- Positive specimens revealed varying concentrations of hexuronic acid, with specific MPS types identified.
- Patients with strongly positive tests showed significantly higher hexuronic acid excretion compared to controls.
Conclusions:
- The Berry spot test is highly effective in identifying patients with MPS disorders.
- Urine analysis simplifies differential diagnosis by revealing biochemical defects.
- The test aids in pinpointing potential enzyme deficiencies associated with MPS.
