Tay Sach's Disease - Neurobiology Of Disease 07 - late onset adult tay sachs narcolepsy


Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program late onset adult tay sachs narcolepsy

There are three types of Tay-Sachs- Infant, Juvenile, and Late-Onset Adult. Causes. Tay-Sachs is an autosomal recessive genetic disorder. The genetic defect occurs on chromosome 15. Both parents must at least carry the gene in order to produce a child affected with Tay-Sachs Disease.

What is Tay-Sachs Disease? Tay-Sachs disease is a fatal neurological genetic disorder that effects lipid storage. Individuals with Tay-Sachs are deficient in an enzyme named beta-hexosaminidase A (Hex-A). The role of Hex-A in the body is to catalyze the breakdown of gangliosides (GM2), an acidic fatty substance within cells.

Status cataplecticus as initial presentation of late onset narcolepsy. Atypical presentation of late-onset Tay-Sachs disease. Lymphangioma circumscriptum in an adult: an unusual oral presentation. Lymphangioma is a benign hamartomatous tumor of lymphatic vessels. This lymphatic malformation is characterized by an abnormal proliferation.

Examples of these disorders include both the juvenile and late-onset forms of Tay-Sachs disease, trisomy X syndrome (XXX syndrome), fragile X syndrome, phenylketonuria (PKU), caudal regression syndrome, and fetal alcohol syndrome.