About The Medical Condition Globoid Body Sclerosis, Diffuse
Find the definition of the medical term Globoid Body Sclerosis, Diffuse. Globoid Body Sclerosis, Diffuse defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Globoid Body Sclerosis, Diffuse
| Globoid Body Sclerosis, Diffuse Medical Condition |
|---|
What's The Definition Of The Medical Condition Globoid Body Sclerosis, Diffuse?
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
- Dental Prosthesis, Surgical ‐ Biocompatible materials placed into (endosseous) or onto (subperiosteal)…
- Baclofen Receptor ‐ Cell surface proteins which bind GAMMA-AMINOBUTYRIC ACID and…
- Ligases, Acid-Amino-Acid ‐ Enzymes that catalyze the joining of an acid and an amino acid…
- Density, Cell ‐ A count of the number of cells of a specific kind, usually measured…
- Optic Nerve ‐ The 2nd cranial nerve. The optic nerve conveys visual information…
- Deoxyribonucleoproteins ‐ Proteins conjugated with deoxyribonucleic acids (DNA) or specific…
- Acute Intermittent Porphyrias ‐ A form of hepatic porphyria (PORPHYRIA, HEPATIC) characterized…
- Mirror Writing ‐ Dominance of one cerebral hemisphere over the other in cerebral…
- Dental Soldering ‐ The joining of pieces of metal through the use of an alloy which…
- Rimantadine Hydrochloride ‐ An RNA synthesis inhibitor that is used as an antiviral agent…