About The Medical Condition Gangliosidosis G(M2), Type II
Find the definition of the medical term Gangliosidosis G(M2), Type II. Gangliosidosis G(M2), Type II defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Gangliosidosis G(M2), Type II
| Gangliosidosis G(M2), Type II Medical Condition |
|---|
What's The Definition Of The Medical Condition Gangliosidosis G(M2), Type II?
An autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A & B (see BETA-N-ACETYLHEXOSAMINIDASE) which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs. Clinical manifestations resemble TAY-SACHS DISEASE, but the disease is not limited to Askenazi Jews and may feature hepatosplenomegaly. The infantile form presents in the first 4 months of life with psychomotor delay, hypotonia followed by spasticity, and cherry red spots in the macula. Rare juvenile and adult forms have been reported. (From Menkes, Textbook of Child Neurology, 5th ed, p92)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- BSIPSS ‐ Sampling of blood levels of the adrenocorticotropic hormone (ACTH)…
- Tosylarginine Methyl Ester ‐ Arginine derivative which is a substrate for many proteolytic…
- Disseminatum, Xanthoma ‐ Group of disorders which feature accumulations of active histiocytes…
- Normal Range ‐ The range or frequency distribution of a measurement in a population…
- Testing, Materials ‐ The testing of materials and devices, especially those used for…
- Lepidium meyenii ‐ A plant genus of the family CRUCIFERAE growing in Peru mountains.…
- Toxic Shock Syndrome ‐ Shock due to circulatory insufficiency caused most commonly by…
- Technic, Decision Support ‐ Mathematical or statistical procedures used as aids in making…
- Orobronze ‐ A trans-carotenoid pigment widely distributed in nature. The…
- Orf virus ‐ The type species of PARAPOXVIRUS which causes a skin infection…