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.