14 results found

Search Results for: sphingolipidosis

Sphingolipidosis

Definition noun, plural: sphingolipidoses A lysosomal disease due to an abnormal sphingolipid... Read More

Cerebral sphingolipidosis

Cerebral sphingolipidosis Any one of a group of inherited diseases characterised by failure to thrive, hypertonicity,... Read More

Sphingolipid

Definition noun plural: sphingolipids sphin·go·lip·id A type of lipid with a sphingoid base (e.g. sphingosine and... Read More

Metachromatic leukodystrophy

Definition noun A type of sphingolipidosis that is often caused by a deficiency in arylsulfatase A or prosaposin resulting... Read More

Niemann-Pick disease

Definition noun A type of sphingolipidosis that is often caused by a deficiency in sphingomyelinase resulting in the... Read More

Fabry disease

Definition noun A type of sphingolipidosis that is often caused by a deficiency in α-galactosidase A resulting in the... Read More

Krabbe disease

Definition noun A type of sphingolipidosis that is often caused by a deficiency in galactocerebrosidase resulting in the... Read More

Tay-Sachs disease

Definition noun A type of sphingolipidosis that is often caused by a deficiency in hexosaminidase A resulting in the... Read More

Lipidosis

Definition noun, plural: lipidoses A type of lysosomal storage disease that is often caused by a deficiency of enzymes... Read More

Vogt-spielmeyer disease

Vogt-Spielmeyer disease --> Spielmeyer-Vogt disease cerebral sphingolipidosis, late juvenile type. Synonym: vogt-Spielmeyer... Read More

Spielmeyer-sjogren disease

Spielmeyer-Sjogren disease cerebral sphingolipidosis, late juvenile... Read More

Batten-mayou disease

Batten-mayou disease cerebral sphingolipidosis, late infantile and juvenile... Read More

Jansky-bielschowsky disease

Jansky-bielschowsky disease cerebral sphingolipidosis, early juvenile... Read More

Ganglioside

Definition noun, plural: gangliosides A glycosphingolipid mostly found in the nerve tissue, and similar in composition as... Read More