Tag: lysosomal storage disease
Sphingolipidosis, Krabbe’s Type
Sphingolipidosis, Krabbe’s Type: Definition and Description of Sphingolipidosis, Krabbe’s Type: Sphingolipidosis, Krabbe’s Type, commonly referred to as Krabbe disease, is a rare and inherited neurological disorder that primarily affects the nervous system. It is classified as a lysosomal storage disease, caused by a deficiency of the enzyme galactocerebrosidase (GALC). This deficiency leads to the accumulation…
Spielmeyer-Vogt Disease
Spielmeyer-Vogt Disease: Definition and Description of Spielmeyer-Vogt Disease: Spielmeyer-Vogt Disease, also known as neuronal ceroid lipofuscinosis type 1 (NCL1), is a rare inherited neurodegenerative disorder. It primarily affects children and is characterized by the progressive loss of vision, intellectual decline, and other neurological symptoms. The disease falls under the family of lysosomal storage diseases, where…