About The Medical Condition Leukodystrophy, Krabbe
Find the definition of the medical term Leukodystrophy, Krabbe. Leukodystrophy, Krabbe defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Leukodystrophy, Krabbe
| Leukodystrophy, Krabbe Medical Condition |
|---|
What's The Definition Of The Medical Condition Leukodystrophy, Krabbe?
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
- Line Management, Product ‐ Management control systems for structuring health care delivery…
- Hepatic Duct ‐ Predominantly extrahepatic bile duct which is formed by the junction…
- Nonacceptors ‐ The seeking and acceptance by patients of…
- Pregnant Mares Serum ‐ Polypeptide hormones secreted in pregnant mares at the junction…
- Mutagenesis, Viral Insertional ‐ Mutagenesis where the mutation is caused by the introduction…
- Information System, Radiologic ‐ Information systems, usually computer-assisted, designed to store,…
- Epidermolysis Bullosa ‐ Group of genetically determined disorders characterized by the…
- Ketosuccinates ‐ Salts and esters of…
- Kyasanur Forest disease virus ‐ A subgroup of the genus FLAVIVIRUS that causes encephalitis and…
- DNA Nucleotidylexotransferase ‐ A non-template-directed DNA polymerase normally found in vertebrate…