About The Medical Condition Leukodystrophy, Globoid Cell, Classic
Find the definition of the medical term Leukodystrophy, Globoid Cell, Classic. Leukodystrophy, Globoid Cell, Classic defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Leukodystrophy, Globoid Cell, Classic
| Leukodystrophy, Globoid Cell, Classic Medical Condition |
|---|
What's The Definition Of The Medical Condition Leukodystrophy, Globoid Cell, Classic?
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
- Salamandridae ‐ A family of Urodela consisting of 15 living genera and about…
- Industry, Healthcare ‐ Economic sector concerned with the provision, distribution, and…
- Acquired Facial Neuropathy ‐ Diseases of the facial nerve or nuclei. Pontine disorders may…
- Neoplasms, Basal Cell ‐ Neoplasms composed of cells from the deepest layer of the epidermis.…
- Abdominal Pain ‐ Sensation of discomfort, distress, or agony in the abdominal…
- Meningitis, Meningococcic ‐ A fulminant infection of the meninges and subarachnoid fluid…
- Calcium Channel, R-Type ‐ CALCIUM CHANNELS located in the neurons of the brain. They are…
- Gla Protein, Bone ‐ Vitamin K-dependent calcium-binding protein synthesized by osteoblasts…
- Photosensitive Epilepsies ‐ A subtype of epilepsy characterized by seizures that are consistently…
- Diiodotyrosine Receptors ‐ Proteins, usually found in the nucleus, that specifically bind…