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
- Decapeptyl ‐ A long-acting GONADORELIN analog agonist. It has been used in…
- Laryngeal Mucosa ‐ The mucous lining of the larynx; mainly stratified squamous epithelium…
- Therapy, Kidney Replacement ‐ Procedures which temporarily or permanently remedy insufficient…
- Indigencies, Medical ‐ The condition in which individuals are financially unable to…
- Therapeutic Social Club ‐ Organizations which provide an environment encouraging social…
- Salt Estradiol, Sodium ‐ The most potent mammalian estrogenic hormone. It is produced…
- Acquired Childhoood Aphasia with Convulsive Disorder ‐ A syndrome characterized by the onset of isolated language dysfunction…
- Circulations, Enterohepatic ‐ Recycling through liver by excretion in bile, reabsorption from…
- TIPSS ‐ A type of surgical portasystemic shunt to reduce portal hypertension…
- Lymphocytic Choriomeningitis Virus Encephalomyelitis ‐ A form of meningitis caused by LYMPHOCYTIC CHORIOMENINGITIS VIRUS.…