About The Medical Condition Infantile Globoid Cell Leukodystrophy

ClusterMed
  1. ClusterMed.info
  2. Medical Conditions
  3. I Illnesses And Diseases
  4. In
  5. Infantile Globoid Cell Leukodystrophy

Find the definition of the medical term Infantile Globoid Cell Leukodystrophy. Infantile Globoid Cell Leukodystrophy defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Infantile Globoid Cell Leukodystrophy

Infantile Globoid Cell Leukodystrophy Medical Condition Defined & Explained
Infantile Globoid Cell Leukodystrophy Medical Condition

What's The Definition Of The Medical Condition Infantile Globoid Cell Leukodystrophy?

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