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GTR Home > Conditions/Phenotypes > Galactosylceramide beta-galactosidase deficiency

Galactosylceramide beta-galactosidase deficiency

Synonyms
Galactocerebrosidase deficiency; Globoid cell leukoencephalopathy; Krabbe Disease; Krabbe leukodystrophy; Leukodystrophy, Globoid Cell
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Krabbe Disease
Krabbe disease comprises a spectrum ranging from infantile-onset disease (i.e., onset of extreme irritability, spasticity, and developmental delay before age 12 months) to later-onset disease (i.e., onset of manifestations after age 12 months and as late as the seventh decade). Although historically 85%-90% of symptomatic individuals with Krabbe disease diagnosed by enzyme activity alone have infantile-onset Krabbe disease and 10%-15% have later-onset Krabbe disease, the experience with newborn screening (NBS) suggests that the proportion of individuals with possible later-onset Krabbe disease is higher than previously thought. Infantile-onset Krabbe disease is characterized by normal development in the first few months followed by rapid severe neurologic deterioration; the average age of death is 24 months (range 8 months to 9 years). Later-onset Krabbe disease is much more variable in its presentation and disease course.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Joseph J Orsini
Maria L Escolar
Melissa P Wasserstein
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Available tests

126 tests are in the database for this condition.

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Clinical tests (126 available)

Biochemical Genetics Tests

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Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased galactocerebrosidase, elevated psychosine, Krabbe Disease (infantile form), 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Krabbe disease: galactocerebrosidase deficiency, 2022
  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased galactocerebrosidase, mildly elevated psychosine, Krabbe Disease (late-onset form), 2022
  • AAP, 2021
    Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.

Molecular resources

Consumer resources

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