metachromatic leukodystrophy
A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.
MONDO:0015547
hereditary dementia
is_a
MONDO:0019046
leukodystrophy
is_a
MONDO:0019255
sphingolipidosis
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
MLD
exact
arylsulfatase A deficiency
exact
SPBPB10D8.02c