Patients are unable to metabolize galactosylceremide, a major component of myelin. The enzyme hydrolyzes the galactose residue from galactosylceremide. Our protocol utilizes 3H-galactosylceramide, the natural substrate for the enzyme.
Quantification is achieved by measuring the release of radiolabelled galactose.
Turn around time is 3-5 days. Prenatal diagnosis is available. The presence of a pseudodeficiency allele will complicate prenatal diagnosis. Pseudodeficiency should be ruled out in parents of affected individuals prior to any prenatal studies. Prior contact with the laboratory is required before submitting any samples for prenatal diagnosis.