About The Medical Condition Krabbes Disease
Find the definition of the medical term Krabbes Disease. Krabbes Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Krabbes Disease
| Krabbes Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Krabbes Disease?
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
- Muscle Fibers, Fast-Twitch ‐ Skeletal muscle fibers having high myofibrillar ATPase activity,…
- Reperfusion, Coronary ‐ Generally, restoration of blood supply to heart tissue which…
- Adoptive Cell Transfer ‐ Form of passive immunization where previously sensitized immunologic…
- Dialysis, Extracorporeal ‐ Removal of certain elements from the blood based on the difference…
- Viral Arthritis ‐ Arthritis caused by bacteria, rickettsiae, mycoplasmas, viruses,…
- Office of Research Integrity ‐ An office of the UNITED STATES PUBLIC HEALTH SERVICE organized…
- Parish Register ‐ The systems and processes involved in the establishment, support,…
- Exchange, Maternal-Fetal ‐ Exchange of substances between the maternal blood and the fetal…
- Periodontal Ligaments ‐ Fibrous connective tissue surrounding the root of a tooth that…
- Employee Grievances ‐ Formal procedures whereby the employee expresses any dissatisfaction…