About The Medical Condition Diseases, Galactosylceramide-beta-Galactosidase Deficiency
Find the definition of the medical term Diseases, Galactosylceramide-beta-Galactosidase Deficiency. Diseases, Galactosylceramide-beta-Galactosidase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Diseases, Galactosylceramide-beta-Galactosidase Deficiency
| Diseases, Galactosylceramide-beta-Galactosidase Deficiency Medical Condition |
|---|
What's The Definition Of The Medical Condition Diseases, Galactosylceramide-beta-Galactosidase Deficiency?
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
- Procedures, Obstetrical Surgical ‐ Surgery performed on the pregnant woman for conditions associated…
- Immune Globulin, Rh ‐ Immunizing agent containing IMMUNOGLOBULIN G anti-Rho(D) used…
- Xray Emission Spectrometry ‐ Identification and measurement of concentration of elements based…
- Abortion Techniques ‐ Intentional removal of a fetus from the uterus by any of a number…
- Epilepsy, Audiogenic Reflex ‐ A subtype of epilepsy characterized by seizures that are consistently…
- Ethic, Institutional ‐ The moral and ethical obligations or responsibilities of…
- Spurge ‐ A large plant genus of the family EUPHORBIACEAE, order Euphorbiales,…
- Drug Labeling ‐ Use of written, printed, or graphic materials upon or accompanying…
- Kinases, Calmodulin-Dependent Protein ‐ A calmodulin-dependent enzyme that catalyzes the phosphorylation…
- Sanctity of Life ‐ The intrinsic moral worth ascribed to a living being. (Bioethics…