About The Medical Condition Gangliosidosis G(M2), Type I
Find the definition of the medical term Gangliosidosis G(M2), Type I. Gangliosidosis G(M2), Type I defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Gangliosidosis G(M2), Type I
| Gangliosidosis G(M2), Type I Medical Condition |
|---|
What's The Definition Of The Medical Condition Gangliosidosis G(M2), Type I?
An autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot. Hexosaminidase A (see BETA-N-ACETYLHEXOSAMINIDASE) is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina. This condition is strongly associated with Askenazic Jewish ancestory. (Menkes, Textbook of Pediatric Neurology, 5th ed pp89-96)
|
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
- Nephron Nephrosis, Lower ‐ Acute kidney failure resulting from destruction of tubular epithelial…
- Esophagitides, Reflux ‐ Inflammation of the esophagus caused by reflux of gastric juice…
- Somatotropin Hypersecretion Syndrome (Acromegaly) ‐ A disorder caused by excessive secretion of SOMATOTROPIN, characterized…
- BU-3839T ‐ A synthetic TETRACYCLINE derivative with similar antimicrobial…
- Liner, Denture ‐ Material applied to the tissue side of a denture to provide a…
- Ocotea ‐ A plant genus in the…
- Para-Azobenzenearsonate ‐ A hapten capable of eliciting both antibody formation and delayed…
- Foscarnet Disodium Salt ‐ An antiviral agent used in the treatment of cytomegalovirus retinitis.…
- Lymphoma Virus, Burkitt ‐ The type species of LYMPHOCRYPTOVIRUS, subfamily GAMMAHERPESVIRINAE,…
- Apo-A ‐ Lipoproteins found in human blood serum in the high-density and…