Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

CBGT
8297
CBGC
8816
metabolism: past, present, and future. Mol Genet Metab 2000 Sep-Oct;71(1-2):62-65 3. Walter JH,
Collins JE, Leonard JV: Recommendations for the management of galactosemia. Arch Dis Child 1999
Jan;80(1):93-96
Galactosylceramide Beta-Galactosidase, Fibroblasts
Clinical Information: Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive
disorder caused by a deficiency of galactosylceramide beta-galactosidase (GBG). A deficiency of this
enzyme leads to an accumulation of galactosylceramide in globoid cells (multinucleated macrophages)
causing severe demyelination throughout the brain. The toxic metabolite galactosylsphingosine
(psychosine), an apoptotic compound, accumulates in oligodendrocytes and Schwann cells and
contributes to disease pathogenicity. Severely affected individuals typically present between 3 to 6
months of age with increasing irritability and sensitivity to stimuli. Rapid neurodegeneration follows
with death usually occurring by age 2. There are later onset forms of the disease that are characterized
by ataxia, vision loss, weakness, and psychomotor regression. The clinical course of Krabbe disease can
be variable even within the same family. Treatment is mostly supportive, although hematopoietic stem
cell transplantation has shown some success if treatment begins before neurologic damaged has
occurred. Krabbe disease is caused by mutations in the GALC gene located on 14q31. Over 60
mutations have been described to date. Molecular genetic analysis, including deletion/duplication
analysis, is commercially available in the United States. Contact Mayo Medical Laboratories for
recommendations or contact information for laboratories that offer this testing.
Useful For: Diagnosis of Krabbe disease
Interpretation: Values below the reference range are consistent with a diagnosis of Krabbe disease.
The upper limit of normal may change with the specific activity of the substrate. Elevated values have
no known clinical significance.
Reference Values:
10.3-89.7 mU/g of cellular protein
Clinical References: 1. Wenger DA: Krabbe Disease. Available from
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=krabbe Reviewed March 29, 2011 2.
Enns GM, Steiner RD, Cowan TM: Lysosomal Disorders. In Pediatric Endocrinology and Inborn Errors
of Metabolism. Edited by Sarafoglou K, Hoffman G, Roth KS, New York, McGraw-Hill Medical, 2009,
p 744
Galactosylceramide Beta-Galactosidase, Leukocytes
Clinical Information: Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive
disorder caused by a deficiency of galactosylceramide beta-galactosidase (GBG). A deficiency of this
enzyme leads to an accumulation of galactosylceramide in globoid cells (multinucleated macrophages)
causing severe demyelination throughout the brain. The toxic metabolite galactosylsphingosine
(psychosine), an apoptotic compound, accumulates in oligodendrocytes and Schwann cells and
contributes to disease pathogenicity. Severely affected individuals typically present between 3 to 6
months of age with increasing irritability and sensitivity to stimuli. Rapid neurodegeneration follows
with death usually occurring by age 2. There are later onset forms of the disease that are characterized
by ataxia, vision loss, weakness, and psychomotor regression. The clinical course of Krabbe disease can
be variable even within the same family. Treatment is mostly supportive, although hematopoietic stem
cell transplantation has shown some success if treatment begins before neurologic damaged has
occurred. Krabbe disease is caused by mutations in the GALC gene located on 14q31. Over 60
mutations have been described to date. Molecular genetic analysis, including deletion/duplication
analysis, is commercially available in the United States. Contact Mayo Medical Laboratories for
recommendations or contact information for laboratories that offer this testing.
Useful For: Diagnosis of Krabbe disease
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