Lysosomal Storage Disorder
Gene: GALC
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
Gene: galc has been classified as Green List (High Evidence).
Phenotypes for gene: GALC were changed from to Krabbe disease, MIM# 245200; MONDO:0009499
Publications for gene: GALC were set to
Mode of inheritance for gene: GALC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: GALC was added gene: GALC was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GALC was set to Unknown