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globoid leukodystrophy; Krabbe's leukodystrophy; galactosylceramide beta-galactosidase deficiency; galactosylceramidase deficiency
Pathology:
- galactocerebrosidase deficiency
- associated with absence of myelin
- perivascular clusters of multinucleated globoid cells seen in areas of demyelination contain galactosylceramide due to deficiency in galactosylceramidase
- progressive encephalopathy
Genetics:
- autosomal recessive
- mutations in GALC
- atypical form associated with defects in PSAP saposin-A region
Clinical manifestations:
- infants are normal at birth
- signs/symptoms begin at 3-6 months of age
- irritability
- fevers
- limb stiffness
- seizures
- feeding difficulties
- vomiting
- slowing of mental & motor development
- other sign/symptoms
- muscle weakness
- spasticity
- deafness
- optic atrophy &/or optic nerve enlargement
- blindness
- paralysis
- dysphagia
- there are also juvenile & adult-onset cases which have similar symptoms but slower progression
Laboratory:
- GALC gene mutation
Differential diagnosis:
- cerebral palsy
Management:
- umbilical cord stem cell transplantation from unrelated donors prior to development of overt symptoms [3]
- prognosis:
- in infants, generally fatal before age 2
- with late-onset disease, patients live longer
Related
galactocerebroside (galactosylceramide)
galactosylceramidase; galactosylceramide beta-galactosidase; galactocerebroside beta-galactosidase; galactosylceraminidase; galactocerebrosidase (GALC)
General
enzyme deficiency
leukodystrophy
sphingolipidosis; sphingolipodystrophy; cerebral lipidosis
Properties
ACCUMULATION: galactocerebroside
DEFICIENCY: galactosylceramidase
Database Correlations
OMIM correlations
References
- Textbook of Biochemistry with Clinical Correlations,
3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 459
- Wikipedia: Krabbe disease
http://en.wikipedia.org/wiki/Krabbe_disease
- Escolar ML1, Poe MD, Provenzale JM et al
Transplantation of umbilical-cord blood in babies with infantile
Krabbe's disease.
N Engl J Med. 2005 May 19;352(20):2069-81.
PMID: 15901860
- NINDS Krabbe Disease Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Krabbe-Disease-Information-Page