Farber disease - Sanjay Manohar's Medical Browser
Farber disease
external
Causes
ASAHG1 gene mutation
Effects
Mental retardation
Dysphagia
Arthralgia
Parents
Sphingolipidosis
Description
"Deficiency of lysosomal enzyme
ceramidase. Ceramide accumalates in tissues
especially joints. "
Type item name:
Sanjay Manohar
2006