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Unit Code 8816:
Galactosylceramide Beta-Galactosidase, Leukocytes

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Useful For

Diagnosis of Krabbe disease

Clinical Information

Krabbe's disease (globoid cell leukodystrophy), is an autosomal

recessive disorder caused by a deficiency of galactosylceramide

beta-galactosidase (GBG). Galactosylceramide (as with sulfated

galactosylceramide) is a lipid component of myelin.

 

The absence of GBG results in globular, distended, multinucleated

bodies in the basal ganglia, pontine nuclei, and cerebral white

matter. There is severe demyelination throughout the brain with

progressive cerebral degenerative disease affecting primarily the

white matter. Early death usually occurs by age 2 years; however,

some patients have lived for 15 years.

 

Krabbe's disease is grouped with the other leukodystrophies

(metachromatic leukodystrophy, adrenal leukodystrophy) see test

#8779 "Arylsulfatase A, Leukocytes" and #81369 "Fatty Acid

Profile, Peroxisomal (C22-C26), Serum." It is appropriate to do testing

for the other conditions if GBG is negative.

Reference Values

21.5 - 59.2 mU/g of protein

Note:     The upper limit of normal may change with the specific

                  activity of the substrate. This is of no consequence since

                  Krabbe's patients are below the lower limit.

Interpretation

Patients with Krabbe disease demonstrate minimal

galactosylceramide beta-galactosidase activity.

Elevated values have no known clinical significance.

 

While this test is used for the diagnosis of Krabbe disease,

some carriers may have depressed (but not absent) activity,

for which additional testing may be recommended. However,

results within the reference range do not rule out carrier status.

Cautions

No significant cautionary statements

Special Instructions and Forms

• Lysosomal Storage Disorders 

Clinical Reference

Wenger DA, Suzuki K, Suzuki Y, Suzuki K : Galactosylceramide

Lipidosis. In The Metabolic and Molecular Bases of Inherited

Disease.  8th edition.  Edited by CR Scriver, AL Beaudet, D Valle et al:

New York, McGraw-Hill Book Company, 2001, pp 3669-3694

 

Key