Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2012

Primary information
ID	2012
Disorder	Metachromatic leukodystrophy (MLD)
Inheritance	Autosomal recessive
Organ Affected	Eye,Nervous System,Muscle
Onset	Early Adult (both)
Genotype-Phenotype Correlation	Late infantile MLD, the most common mutation is an ARSA splicing defect, c.465+1G>A, and for adult onset MLD the most common is c.1283C>T; together these mutations account for almost 33% of MLD alleles (Cesani et al., 2016)
Refrences	27638601