| umls-concept:C0023522 | skos:definition | MSH: An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.,CSP: autosomal recessive lysosomal storage disease caused by a deficiency of cerebroside sulfatase leading to an accumulation of cerebroside sulfate in the nervous system and other organs.,NCI: An autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. It is caused by a deficiency of the enzyme arylsulfatase A. There are three forms of this disease: late infantile, juvenile, and adult. In the late infantile form symptoms include muscle weakness and rigidity, gait disturbances, developmental delays, and seizures. In | lld:umls |
