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
- Genes, LacZ ‐ The genetic unit consisting of three structural genes, an operator…
- RNA, Transfer, Amino Acyl ‐ Intermediates in protein biosynthesis. The compounds are formed…
- Hemeralopia Heredoataxia Polyneuritiformi ‐ An autosomal recessive familial disorder that usually presents…
- Hypoplastic Anemias ‐ A form of anemia in which the bone marrow fails to produce adequate…
- Macrophage-1 Antigen ‐ An adhesion-promoting leukocyte surface membrane heterodimer.…
- Volunteer Workers ‐ Persons who donate their…
- Polyimmunoglobulin Receptor ‐ Specialized Fc receptors (RECEPTORS, FC) for polymeric immunoglobulins,…
- National Institutes of Health (U.S.) ‐ An agency of the PUBLIC HEALTH SERVICE concerned with the overall…
- Respiratory System ‐ The tubular and cavernous organs and structures, by means of…
- Globulin, Antithymocyte ‐ Serum containing gamma-globulins which are antibodies for lymphocyte…