About The Medical Condition Early-Onset Globoid Cell Leukodystrophy
Find the definition of the medical term Early-Onset Globoid Cell Leukodystrophy. Early-Onset Globoid Cell Leukodystrophy defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Early-Onset Globoid Cell Leukodystrophy
| Early-Onset Globoid Cell Leukodystrophy Medical Condition |
|---|
What's The Definition Of The Medical Condition Early-Onset Globoid Cell Leukodystrophy?
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
- Quinacrine Dihyrochloride, (R)-Isomer ‐ An acridine derivative formerly widely used as an antimalarial…
- Argyll-Robertson Pupil, Non-Syphilitic ‐ Conditions which affect the structure or function of the pupil…
- Radiation Injuries, Experimental ‐ Harmful effects of exposure to ionizing or non-ionizing radiation…
- Foot, Madura ‐ A disease caused by various fungi (Madurella mycetomi) or actinomycetes…
- Neoplasms, Breast ‐ Tumors or cancer of…
- Imprinting, Genetic ‐ The variable phenotypic expression of a gene depending on whether…
- Cell, Jurkat ‐ A cell line derived from human T-cell leukemia and used to determine…
- Products, Meat ‐ Articles of food which are derived by a process of manufacture…
- Acetylcysteine, (DL)-Isomer ‐ The N-acetyl derivative of CYSTEINE. It is used as a mucolytic…
- Crural Pareses ‐ A general term referring to a mild to moderate degree of muscular…