About The Medical Condition Disease, Fucosidase Deficiency

ClusterMed
  1. ClusterMed.info
  2. Medical Conditions
  3. D Illnesses And Diseases
  4. Di
  5. Disease, Fucosidase Deficiency

Find the definition of the medical term Disease, Fucosidase Deficiency. Disease, Fucosidase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Disease, Fucosidase Deficiency

Disease, Fucosidase Deficiency Medical Condition Defined & Explained
Disease, Fucosidase Deficiency Medical Condition

What's The Definition Of The Medical Condition Disease, Fucosidase Deficiency?

An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

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

Medical Conditions