Uniprot Description An atypical form of metachromatic leukodystrophy. It is characterized by tissue accumulation of cerebroside-3-sulfate, demyelination, periventricular white matter abnormalities, peripheral neuropathy. Additional neurological features include dysarthria, ataxic gait, psychomotor regression, seizures, cognitive decline and spastic quadriparesis.
Mondo Term and Equivalent IDs
MONDO:0009590: metachromatic leukodystrophy due to saposin b deficiency