Sorted By Test Name - Mayo Medical Laboratories

CBGC
8816
GAL3
86202
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
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:
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 patients are below the lower limit.
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
Galectin-3, Serum
Clinical Information: Heart failure is a complex cardiovascular disorder with a variety of etiologies
and heterogeneity with respect to the clinical presentation of the patient. Heart failure is significantly
increasing in prevalence with an aging population and is associated with high short- and long-term
mortality rate. Over 80% of patients diagnosed and treated for acute heart failure syndromes in the
emergency department are readmitted within the forthcoming year, incurring costly treatments and
therapies.(1) The development and progression of heart failure is a clinically-silent process until
manifestation of the disorder, which typically occurs late and irreversibly into its progression.
Mechanistically, heart failure, whether due to systolic or diastolic dysfunction, is thought to progress
primarily through adverse cardiac remodeling and fibrosis in response to cardiac injury and/or stress.
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