Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2023

Primary information
ID	2023
Disorder	Krabbe disease (globoid cell leukodystrophy)
Inheritance	Autosomal recessive
Organ Affected	Nervous System,Eye,Ear
Onset	Early
Genotype-Phenotype Correlation	residual GALC activity in both leukocyte and skin fibroblast samples from the patient with the L629R mutation, who was diagnosed with late-onset GLD, is indistinguishable from residual GALC activity in infantile patients who have the most severe form of GLD. I234T mutation, which was also found in a late-onset patient, was confirmed to have an undetectable level of residual activity.D528N mutation appears to influence glycosylation, and alter protein processing, secretion, re-uptake and trafficking to lysosomes in a way that reduces GALC function and causes disease
Refrences	20410102