About The Medical Condition Gangliosidosis GM1, Juvenile
Find the definition of the medical term Gangliosidosis GM1, Juvenile. Gangliosidosis GM1, Juvenile defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Gangliosidosis GM1, Juvenile
| Gangliosidosis GM1, Juvenile Medical Condition |
|---|
What's The Definition Of The Medical Condition Gangliosidosis GM1, Juvenile?
A form of gangliosidosis characterized by accumulation of G(M1) GANGLIOSIDE and oligosaccharides in lysosomes caused by an absence or severe deficiency of the enzyme BETA-GALACTOSIDASE (type A1). The three phenotypes of this disorder are infantile (generalized), juvenile, and adult. The infantile form is characterized by skeletal abnormalities, hypotonia, poor psychomotor development, hirsutism, hepatosplenomegaly, and facial abnormalities. The juvenile form features hyperacusis, seizures, and psychomotor retardation. The adult form features progressive intellectual deterioration, involuntary movements, ataxia, and spasticity. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
|
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
- Amidazine ‐ A second-line antitubercular agent that inhibits mycolic acid…
- American Hospital Association ‐ A professional society in the United States whose membership…
- Carotid Thrombosis ‐ Blood clot formation in the common, internal, or external carotid…
- Moon Phase ‐ The natural satellite of the planet Earth. It includes the lunar…
- Pontine Capillary Telangiectasias ‐ Congenital or acquired malformations involving arteries, veins,…
- GTP-Binding Protein, G25P ‐ A member of the Rho family of MONOMERIC-GTP-BINDING PROTEINS.…
- Blocks, Bundle-Branch ‐ A form of heart block in which one ventricle is excited before…
- Intermittant Vertigo ‐ An illusion of movement, either of the external world revolving…
- Hemorrhagic Fever Virus, Bolivian ‐ One of two groups of viruses in the ARENAVIRUS genus and considered…
- Abdomen ‐ That portion of the body that lies between the thorax and the…