Lysosomal Storage Disorder

Gene: GALC

Green List (high evidence)

Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay. There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms.

Multiple families reported.

Created: 8 Apr 2021, 10:51 a.m. | Last Modified: 8 Apr 2021, 10:51 a.m.

Panel Version: 0.101

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Krabbe disease, MIM# 245200; MONDO:0009499

Publications

• 20886637