Schindler disease

Schind·ler dis·ease

an autosomal recessive disorder with deficient activity of α-N-acetylgalactosaminidase resulting in accumulation of glycoproteins and other substrates that are deposited in terminal axons, primarily in gray matter.
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
The possibility of detecting Schindler disease (OMIM #609241) and [beta] -mannosidosis (OMIM #248510), a condition known to remain undetected by TLC analysis (3), has not been explored yet.