Merck Manual

Please confirm that you are a health care professional

honeypot link

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

Krabbe disease is a sphingolipidosis Sphingolipidoses Lysosomal enzymes break down macromolecules, either those from the cell itself (eg, when cellular structural components are being recycled) or those acquired outside the cell. Inherited defects... read more , an inherited disorder of metabolism, that causes intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death.

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

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

Test your knowledge

Mumps
Mumps is an acute, contagious, systemic viral disease caused by a paramyxovirus. It is spread by droplets or saliva and probably enters through the nose and mouth. After a 12- to 24-day incubation period, headache, anorexia, malaise, and low-grade fever usually develop. Then several other symptoms develop over the next few days. Of these symptoms, edema of which of the following structures is most likely to peak on the 2nd day and typically last 5 to 7 days? 
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
 

Also of Interest

 
TOP