About The Medical Condition Globoid Cell Leukodystrophy
Find the definition of the medical term Globoid Cell Leukodystrophy. Globoid Cell Leukodystrophy defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Globoid Cell Leukodystrophy
Globoid Cell Leukodystrophy Medical Condition |
---|
What's The Definition Of The Medical Condition 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
- Basic Polypeptide, Cardiotoxin-Like ‐ Most abundant proteins in cobra (Naja of the Elapids) venom;…
- Gramoderm ‐ A group of antibiotics (ANTIBIOTICS, PEPTIDE) from Bacillus brevis.…
- Zona ‐ An acute infectious, usually self-limited, disease believed to…
- Beta Disease, Broad ‐ A rather uncommon form of familial hyperlipemia characterized…
- Dentistry, Occupational ‐ The branch of dentistry concerned with maintaining oral health…
- Prairie Dogs ‐ A family of the order Rodentia which contains 49 genera. Some…
- Erythromycin Propionate Monododecyl Sulfate ‐ A macrolide antibiotic, produced by Streptomyces erythreus. It…
- Antigenic Variability ‐ Change in the surface antigen of a microorganism. There are two…
- Replication, Autonomous ‐ The process by which a DNA molecule is…
- Folding, Globular Protein ‐ A rapid biochemical reaction involved in the formation of proteins.…