About The Medical Condition Disease, Galactosylceramide-beta-Galactosidase Deficiency
Find the definition of the medical term Disease, Galactosylceramide-beta-Galactosidase Deficiency. Disease, Galactosylceramide-beta-Galactosidase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Disease, Galactosylceramide-beta-Galactosidase Deficiency
| Disease, Galactosylceramide-beta-Galactosidase Deficiency Medical Condition |
|---|
What's The Definition Of The Medical Condition Disease, Galactosylceramide-beta-Galactosidase Deficiency?
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
- Fistula, Esophagotracheal ‐ Abnormal communication between the esophagus and the trachea,…
- GdoI Endonuclease ‐ One of the Type II site-specific deoxyribonucleases (EC 3.1.21.4).…
- CAT-1 Transport Protein ‐ A high-affinity, low capacity system y+ amino acid transporter…
- Paralyses, Myotonic Periodic ‐ An autosomal dominant familial disorder which presents in infancy…
- Amyloidosis, Familial ‐ Diseases in which there is a familial pattern of…
- Monoclate ‐ Blood-coagulation factor VIII. Antihemophilic factor that is…
- Win40680 ‐ A positive inotropic cardiotonic (CARDIOTONIC AGENTS) with vasodilator…
- Behavior Disorders, Social ‐ Behaviors which are at variance with the expected social norm…
- Vernal Conjunctivitis ‐ Conjunctivitis due to hypersensitivity to various…
- Complexes, Ventricular Premature ‐ Premature contractions of the ventricle, the most common of all…