About The Medical Condition Galactosylceramide-beta-Galactosidase Deficiency Diseases
Find the definition of the medical term Galactosylceramide-beta-Galactosidase Deficiency Diseases. Galactosylceramide-beta-Galactosidase Deficiency Diseases defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Galactosylceramide-beta-Galactosidase Deficiency Diseases
| Galactosylceramide-beta-Galactosidase Deficiency Diseases Medical Condition |
|---|
What's The Definition Of The Medical Condition Galactosylceramide-beta-Galactosidase Deficiency Diseases?
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
- Religious Belief ‐ A set of beliefs concerning the nature, cause, and purpose of…
- Cardiac Ruptures ‐ Laceration or tearing of the walls of the heart, of the interatrial…
- Tyrosine Hydroxylase ‐ An enzyme that catalyzes the conversion of L-tyrosine, tetrahydrobiopterin,…
- Achondroplasia ‐ An autosomal dominant disorder that is the most frequent form…
- Ticks ‐ Blood-sucking acarid parasites of the order Ixodida comprising…
- Benign Hepatomas ‐ A benign epithelial tumor of…
- Deficiency, Vitamin B6 ‐ A nutritional condition produced by a deficiency of VITAMIN B…
- Hyposensitization Therapies ‐ Immunosuppression by the administration of increasing doses of…
- Psychological Models ‐ Theoretical representations that simulate psychological processes…
- Anhydrous Tolmetin Sodium ‐ A non-steroidal anti-inflammatory agent (ANTI-INFLAMMATORY AGENTS,…