About The Medical Condition Deficiency Diseases, Galactosylceramide-beta-Galactosidase
Find the definition of the medical term Deficiency Diseases, Galactosylceramide-beta-Galactosidase. Deficiency Diseases, Galactosylceramide-beta-Galactosidase defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Deficiency Diseases, Galactosylceramide-beta-Galactosidase
| Deficiency Diseases, Galactosylceramide-beta-Galactosidase Medical Condition |
|---|
What's The Definition Of The Medical Condition Deficiency Diseases, Galactosylceramide-beta-Galactosidase?
An autosomal recessive inherited sphingolipidosis caused by a deficiency of GALACTOSYLCERAMIDASE leading to an accumulation of PSYCHOSINE in LYSOSOMES of the BRAIN; PERIPHERAL NERVES; LIVER; KIDNEY; and LEUKOCYTES. In the nervous sytem there is prominent central and peripheral demyelination. The infantile form presents at age 4-6 months with psychomotor retardation, MUSCLE SPASTICITY, and tonic spasms induced by minor stimuli. Death occurs within two years. Later onset forms of this disease are characterized by a less fulminant course. (From Menkes, Textbook of Child Neurology, 5th ed, pp195-7)
|
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
- Epidermal Necrolysis, Toxic ‐ An exfoliative disease of skin seen primarily in adults and characterized…
- Receptor, Scatter Factor ‐ A cell surface protein-tyrosine kinase receptor for HEPATOCYTE…
- Bretylol ‐ An agent that blocks the release of adrenergic transmitters and…
- Simplex, Diabetic Mononeuropathy ‐ Peripheral, autonomic, and cranial nerve disorders that are associated…
- Impacts, Social ‐ Social process whereby the values, attitudes, or institutions…
- Dopamine Agents ‐ Any drugs that are used for their effects on dopamine receptors,…
- Blood Coagulation Factors ‐ Endogenous substances, usually proteins, that are involved in…
- Chondroitin B Lyase ‐ Enzymes which catalyze the elimination of delta-4,5-D-glucuronate…
- Brainstem Vertigos ‐ An illusion of movement, either of the external world revolving…
- Tympanic Membrane Ruptures ‐ An opening in the tympanic membrane usually caused by trauma.…