About The Medical Condition Early-Onset Globoid Cell Leukodystrophy
Find the definition of the medical term Early-Onset Globoid Cell Leukodystrophy. Early-Onset Globoid Cell Leukodystrophy defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Early-Onset Globoid Cell Leukodystrophy
| Early-Onset Globoid Cell Leukodystrophy Medical Condition |
|---|
What's The Definition Of The Medical Condition Early-Onset 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
- Ro55345 ‐ A benzodiazepinone that acts as a GAMMA-AMINOBUTYRIC ACID modulator…
- Bone Marrow Neoplasm ‐ Neoplasms located in the bone marrow. They are differentiated…
- Lac Operons ‐ The genetic unit consisting of three structural genes, an operator…
- Benign Essential Tremors ‐ A relatively common disorder characterized by a fairly specific…
- Sarcoma Viruses, Murine ‐ A group of replication-defective viruses, in the genus GAMMARETROVIRUS,…
- Torsade de Pointe ‐ A ventricular tachycardia characterized by periodic twisting…
- Catatonias, Malignant ‐ A neuropsychiatric disorder characterized by one or more of the…
- Clinitar ‐ A by-product of the destructive distillation of coal used as…
- Ventricles, Artificial Heart ‐ Small pumps, often implantable, designed for temporarily assisting…
- Ion-Selective Electrode ‐ Electrodes which can be used to measure the concentration of…