Krabbe Disease

Excerpt

Krabbe disease is an autosomal recessive neurodegenerative disorder. The gene mutation occurs at chromosome 14, which codes for a lysosomal hydrolase known as galactosylceramide beta hydrolase (GALC). This enzyme is responsible for metabolizing galactolipids in the central nervous system and peripheral nervous system, and the failure of which will lead to the accumulation of compounds responsible for neurodegeneration. Krabbe disease is also known as globoid cell leukodystrophy because of the characteristic multinucleated globoid cells found on brain biopsy and the presence of white matter degeneration. Krabbe disease is subdivided into four subcategories based on the age of presentation of symptoms; however, many experts disagree with the age range allotted to different subtypes.

1. Early infantile type: 0 to 13 months

2. Late infantile type: 13 to 36 months

3. Juvenile type: 3 to 16 years

4. Adult type: >16 years