About The Medical Condition Diseases, Galactosylceramidase Deficiency
Find the definition of the medical term Diseases, Galactosylceramidase Deficiency. Diseases, Galactosylceramidase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Diseases, Galactosylceramidase Deficiency
| Diseases, Galactosylceramidase Deficiency Medical Condition |
|---|
What's The Definition Of The Medical Condition Diseases, Galactosylceramidase 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
- NADH Diaphorase ‐ A flavoprotein that catalyzes the reduction of lipoamide by NADH…
- Salazopyrin ‐ A drug that is used in the management of inflammatory bowel diseases.…
- Rite, Funeral ‐ Those customs and ceremonies pertaining to…
- Acid, Triiodobenzoic ‐ Triiodo-substituted derivatives of…
- Selenious Acid ‐ A selenium compound used as a source of SELENIUM, especially…
- Venom, Arachnid ‐ Venoms of arthropods of the order Araneida of the Arachnida.…
- Bladder, Atonic Neurogenic ‐ Dysfunction of the urinary bladder due to disease of the central…
- HPD-ECGF ‐ The enzyme catalyzing the transfer of 2-deoxy-D-ribose from thymidine…
- Anomies ‐ A state of social disorganization and demoralization in society…
- Syndrome, Low T3 ‐ Abnormalities in thyroid hormone and thyroid-stimulating hormone…