About The Medical Condition Diseases, Galactosylceramide-beta-Galactosidase Deficiency
Find the definition of the medical term Diseases, Galactosylceramide-beta-Galactosidase Deficiency. Diseases, Galactosylceramide-beta-Galactosidase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Diseases, Galactosylceramide-beta-Galactosidase Deficiency
| Diseases, Galactosylceramide-beta-Galactosidase Deficiency Medical Condition |
|---|
What's The Definition Of The Medical Condition Diseases, 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
- Disease Manifestations, Muscle ‐ Signs and symptoms associated with diseases of the muscle, neuromuscular…
- Antifertility Vaccines ‐ Vaccines or candidate vaccines used to prevent…
- Entopeduncular Nucleus ‐ A portion of the nucleus of ansa lenticularis located medial…
- Canine Infectious Hepatitis ‐ An adenovirus infection causing fever, edema, vomiting, and diarrhea…
- Transmissions, Horizontal ‐ The transmission of infectious disease or pathogens from one…
- Symptoms, Drug Withdrawal ‐ Physiological and psychological symptoms associated with withdrawal…
- Linker-Insertion Mutageneses ‐ Mutagenesis where the mutation is caused by the introduction…
- Far-Western Blottings ‐ A method that is derived from western blotting (BLOTTING, WESTERN)…
- Neoplasms, Head ‐ Soft tissue tumors or cancer arising from the mucosal surfaces…
- Phage fr, Enterobacteria ‐ A bacteriophage genus of the family LEVIVIRIDAE, whose viruses…