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Updated: Aug 11, 2026
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Mass Spectrometric Analysis of Glycosphingolipid Antigens
Published on: April 16, 2013
[Enzyme diagnostics in lysosomal diseases with emphasis on sphingolipidoses]
Archives Francaises De Pediatrie
|June 1, 1975
Summary
Enzymatic diagnosis for sphingolipidoses is now precise using various cell types and artificial substrates. Early and accurate diagnosis, especially for Tay-Sachs disease, is crucial for management and prenatal detection.
Area of Science:
- Biochemistry
- Genetics
- Medical Diagnostics
Context:
- Sphingolipidoses are a group of inherited metabolic disorders.
- Accurate diagnosis is essential for patient management and genetic counseling.
Purpose:
- To describe the conditions and results of enzymatic diagnosis for sphingolipidoses.
- To highlight the importance of precise and early diagnosis.
Summary:
- Enzymatic diagnosis of sphingolipidoses can be performed on white blood cells, cultured fibroblasts, amniotic cells, serum, or urine.
- Artificial substrates simplify diagnosis, with quantitative or qualitative methods like cellulose acetate electrophoresis available.
- Tay-Sachs disease and its variants show particularly clear diagnostic results.
Impact:
- Enables precise and early diagnosis of sphingolipidoses.
- Facilitates prenatal detection for at-risk pregnancies.
- Improves management strategies for fatal genetic disorders.
