Merck Manual

Please confirm that you are a health care professional

Loading

Krabbe Disease

(Krabbe's Disease; Galactosylceramide Lipidosis; Globoid Cell Leukodystrophy)

By

Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Apr 2020| Content last modified Apr 2020
Click here for Patient Education
NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version

Krabbe disease is a sphingolipidosis, an inherited disorder of metabolism, that causes intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death.

For more information, see table Some Sphingolipidoses.

Krabbe disease is caused by an autosomal recessive galactocerebroside beta-galactosidase deficiency.

It affects infants and is characterized by intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death.

Diagnosis of Krabbe disease is by DNA analysis and/or detecting enzyme deficiency in white blood cells or cultured skin fibroblasts. (Also see testing for suspected inherited disorders of metabolism.)

Because bone marrow or stem cell transplantation effectively delays onset of symptoms, prenatal testing or neonatal screening (routine in New York) is sometimes done.

Click here for Patient Education
NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version
Professionals also read

Also of Interest

Videos

View All
Overview of Tetralogy of Fallot
Video
Overview of Tetralogy of Fallot
3D Models
View All
Cystic Fibrosis: Defective Chloride Transport
3D Model
Cystic Fibrosis: Defective Chloride Transport

SOCIAL MEDIA

TOP