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Test ID: CBGC    
Galactocerebrosidase, Leukocytes

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of Krabbe disease

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Diagnostic testing for patients with clinical signs and symptoms suspicious for Krabbe disease.

This test is not intended for carrier detection.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive disorder caused by a deficiency of galactocerebrosidase. A deficiency of this enzyme leads to an accumulation of galactosylceramide causing severe demyelination throughout the brain. Krabbe disease is caused by mutations in the GALC gene, and it has an estimated frequency of 1 in 100,000 births.

 

Severely affected individuals typically present between 3 to 6 months of age with increasing irritability and sensitivity to stimuli. Rapid neurodegeneration including white matter disease follows with death usually occurring by age 2. A small subset of individuals have late onset forms of the disease that are characterized by ataxia, vision loss, weakness, and psychomotor regression presenting anywhere from age 6 months to the seventh decade of life. 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 damage has occurred.

 

Reduced or absent galactocerebrosidase in leukocytes or fibroblasts (CBGT / Galactocerebrosidase, Fibroblasts) can indicate a diagnosis of Krabbe disease. Molecular sequencing of the GALC gene (GALCS / Krabbe Disease, Full Gene Analysis and Large [30 kb] Deletion, PCR) allows for detection of the disease-causing mutations in affected patients and carrier detection in family members.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

> or =1.20 nmol/h/mg protein

Interpretation Provides information to assist in interpretation of the test results

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.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Because of the wide range of enzymatic activities observed in carriers and noncarriers, this test is not recommended for carrier detection.

Clinical Reference Provides recommendations for further in-depth reading of a clinical nature

1. Wenger DA: Krabbe Disease. Available from URL: 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 K Sarafoglou, G Hoffman, KS Roth. New York, McGraw- Hill Medical, 2009, p 744

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test