About The Medical Condition Deficiency Diseases, Galactosylceramidase
Find the definition of the medical term Deficiency Diseases, Galactosylceramidase. Deficiency Diseases, Galactosylceramidase defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Deficiency Diseases, Galactosylceramidase
| Deficiency Diseases, Galactosylceramidase Medical Condition |
|---|
What's The Definition Of The Medical Condition Deficiency Diseases, Galactosylceramidase?
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
- Neoplasms, Intracranial ‐ Neoplasms of the intracranial components of the central nervous…
- Aujeszky Disease Virus ‐ A species of VARICELLOVIRUS producing a respiratory infection…
- Syndrome, Marchiafava-Micheli ‐ Disorder characterized by intravascular hemolysis and hemoglobinuria.…
- Hydrochloride, Methamphetamine ‐ A central nervous system stimulant and sympathomimetic with actions…
- Tumor, Medullary ‐ Benign and malignant intra-axial tumors of the MESENCEPHALON;…
- Massages, Heart ‐ Rhythmic compression of the heart by pressure applied manually…
- Proximal Renal Tubular Dysfunction ‐ Constellation of clinical and laboratory manifestations produced…
- Bite Force ‐ The force applied by the masticatory muscles in dental…
- HMSN Type IIs ‐ A hereditary motor and sensory neuropathy transmitted most often…
- Drug Recall ‐ Control of drug and narcotic use by international agreement,…