About The Medical Condition Classic Globoid Cell Leukodystrophy
Find the definition of the medical term Classic Globoid Cell Leukodystrophy. Classic Globoid Cell Leukodystrophy defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Classic Globoid Cell Leukodystrophy
| Classic Globoid Cell Leukodystrophy Medical Condition |
|---|
What's The Definition Of The Medical Condition Classic 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
- Diabetic Polyneuropathies ‐ Peripheral, autonomic, and cranial nerve disorders that are associated…
- Proteins, v-rel ‐ Transforming proteins coded by rel oncogenes. The v-rel protein…
- Sulbenicillin ‐ Semisynthetic penicillin-type…
- Anal Sacs ‐ Two sacs opening on either side of the anus near the junction…
- Chard ‐ A species of the Beta genus. Cultivars are used as a source of…
- Disease, Hereditary Neurodegenerative ‐ Inherited disorders characterized by progressive atrophy and…
- Antischistosomal Agents ‐ Agents that act systemically to kill adult…
- Tactile Reflex Epilepsies ‐ A subtype of epilepsy characterized by seizures that are consistently…
- Gene Rearrangement, alpha-Chain T-Cell Antigen Receptor ‐ Ordered rearrangement of T-cell variable gene regions coding…
- Somnolence Disorders, Excessive ‐ Disorders characterized by hypersomnolence during normal waking…