Fucosidase Deficiency Disease Medical Condition Defined & Explained

About The Medical Condition Fucosidase Deficiency Disease

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

Fucosidase Deficiency Disease

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

Fucosidase Deficiency Disease Medical Condition

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

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

Religious Belief ‐ A set of beliefs concerning the nature, cause, and purpose of…
Cardiac Ruptures ‐ Laceration or tearing of the walls of the heart, of the interatrial…
Tyrosine Hydroxylase ‐ An enzyme that catalyzes the conversion of L-tyrosine, tetrahydrobiopterin,…
Achondroplasia ‐ An autosomal dominant disorder that is the most frequent form…
Ticks ‐ Blood-sucking acarid parasites of the order Ixodida comprising…
Benign Hepatomas ‐ A benign epithelial tumor of…
Deficiency, Vitamin B6 ‐ A nutritional condition produced by a deficiency of VITAMIN B…
Hyposensitization Therapies ‐ Immunosuppression by the administration of increasing doses of…
Psychological Models ‐ Theoretical representations that simulate psychological processes…
Anhydrous Tolmetin Sodium ‐ A non-steroidal anti-inflammatory agent (ANTI-INFLAMMATORY AGENTS,…