Assays / Genetic Enzymes / a-N-Acetylgalactosaminidase (Previously known as a-Galactosidase B)

Principle Of Method:
Hydrolysis of the synthetic substrate 4-methylumbelliferyl-a-D-N-acetylgalactosaminide is followed by measuring the fluorescence of the liberated 4-methylumbelliferone after stopping the reaction with alkaline buffer.

Uses And Limitations Of The Method:
Deficiency of this enzyme is the basic defect in Schindler disease, a rare autosomal recessive disorder occurring with two main clinical phenotypes. Prenatal diagnosis should be possible by measuring the enzyme in chorionic villi or amniotic cells.

The enzyme was previously called a-galactosidase B.

The assay is included in our lysosomal enzyme screening procedure for patients with a neurodegenerative disorder.

Specimen Requirements:
Blood. 5 ml lithium heparin (orange capped tube) unseparated and unfrozen. Send at room temperature to arrive at the laboratory within 24h of venepuncture.

THE LABORATORY RECOMMENDS USE OF A COURIER SERVICE OR ROYAL MAIL SPECIAL DELIVERY FOR SENDING ALL SPECIMENS TO THE LABORATORY.

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