About The Medical Condition Galactosylceramide-beta-Galactosidase Deficiency Disease
Find the definition of the medical term Galactosylceramide-beta-Galactosidase Deficiency Disease. Galactosylceramide-beta-Galactosidase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Galactosylceramide-beta-Galactosidase Deficiency Disease
Galactosylceramide-beta-Galactosidase Deficiency Disease Medical Condition |
---|
What's The Definition Of The Medical Condition Galactosylceramide-beta-Galactosidase Deficiency 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
- Abrin A ‐ A toxic lectin from the seeds of jequirity, Abrus precatorius…
- Forneau 933 ‐ A benzodioxane alpha-adrenergic blocking agent with considerable…
- Polymyositides ‐ Diseases characterized by inflammation involving multiple muscles.…
- Human Combustibilities, Preternatural ‐ A circumstance where a substance or organism takes fire and burns…
- Vagus Nerve Sensory Disorder ‐ Diseases of the tenth cranial nerve, including brain stem lesions…
- Histamine Binding Sites ‐ Cell-surface proteins that bind histamine and trigger intracellular…
- Immunologic Tumoricidal Activities ‐ The phenomenon of target cell destruction by immunologically…
- Generalized Seizures ‐ Clinical or subclinical disturbances of cortical function due…
- Models, Laboratory Animal ‐ Non-human animals, selected because of specific characteristics,…
- DNA Profiling ‐ A procedure in which multilocus band patterns of a DNA sample…