Fucosidosis Type I
Health dictionary
Untitled Document
Search :      

Art dictionary
Financial dictionary
Hollywood dictionary
Insurance dictionary
Literature dictionary
Real Estate dictionary
Tourism dictionary

 
  Fucosidosis Type I



Fucosidosis Type I

   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)

RELATED TERMS
--------------------------------------

Autosomal
"Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. People normally have 22 pairs of autosomes (44 autosomes) in each cell together with two sex chromosomes (X and Y in the male and XX in the female). "

Disease
Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.

GLYCOPROTEINS
Conjugated protein-carbohydrate compounds including mucins, mucoid, and amyloid glycoproteins.

MUSCLE
Tissue made up of bundles of long, slender cells that contract when stimulated.

SPASTICITY
Involuntary muscle tightness and stiffness that occurs in about two-thirds of people with cerebral palsy and in many who suffer severe head injuries. The medical definition of dystonia is a velocity-dependent, increased resistance to passive muscle stretch. In other words, when a muscle affected by spasticity is stretched by someone else, it is harder to move the muscle than normal, and the faster one pushes, the harder the muscle is to move.

Retardation
Delay or halt of any process such as mental or physical development.

Death
1. The end of life. The cessation of life. (These common definitions of death ultimately depend upon the definition of life, upon which there is no consensus.) 2. The permanent cessation of all vital bodily functions. (This definition depends upon the definition of "vital bodily functions.") See: Vital bodily functions. 3. The common law standard for determining death is the cessation of all vital functions, traditionally demonstrated by "an absence of spontaneous respiratory and cardiac functions." 4. The uniform determination of death.

Fucosidosis
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)

Neurology
The branch of medicine that pertains to the nervous system.



SIMILAR TERMS
--------------------------------------

Fucose, GDP
A nucleoside diphosphate sugar formed from GDPmannose, which provides fucose for lipopolysaccharides of bacterial cell walls, and for blood group substances and other glycoproteins.

Fucose, Guanosine Diphosphate
A nucleoside diphosphate sugar formed from GDPmannose, which provides fucose for lipopolysaccharides of bacterial cell walls, and for blood group substances and other glycoproteins.

Fucosidase
An enzyme that catalyzes the hydrolysis of an alpha L-fucoside to yield an alcohol and L-fucose. Deficiency of this enzyme can cause FUCOSIDOSIS. EC 3.2.1.51.

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 Diseases
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)

Fucosidosis
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)

Fucosidosis Type II
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)

Fucosidosis, Infantile
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)

Fucosidosis, Juvenile
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)

Fucosyl Galactose Acetylgalactosaminyltransferase
An enzyme that catalyzes the transfer of acetylgalactosamine from UDP N-acetylgalactosamine to various 2-fucosylgalactosides as acceptors. EC 2.4.1.40.

Fucosyl Galactose alpha N Acetylgalactosaminyltransferase
An enzyme that catalyzes the transfer of acetylgalactosamine from UDP N-acetylgalactosamine to various 2-fucosylgalactosides as acceptors. EC 2.4.1.40.

Fucosyl Galactose alpha-N-Acetylgalactosaminyltransferase
An enzyme that catalyzes the transfer of acetylgalactosamine from UDP N-acetylgalactosamine to various 2-fucosylgalactosides as acceptors. EC 2.4.1.40.

Fucosyl SSEA 1
Carbohydrate antigen which is accumulated in various human cancer tissues and secreted into the blood stream. The carbohydrate moiety can be further modified with fucose or sialic acid. Monoclonal antibodies have been determined which can discriminate each subgroup of this antigen in the sera of cancer patients. Sialyl SSEA-1 antigen is particularly elevated in the sera of patients with a variety of tumors.

Fucosyl SSEA-1
Carbohydrate antigen which is accumulated in various human cancer tissues and secreted into the blood stream. The carbohydrate moiety can be further modified with fucose or sialic acid. Monoclonal antibodies have been determined which can discriminate each subgroup of this antigen in the sera of cancer patients. Sialyl SSEA-1 antigen is particularly elevated in the sera of patients with a variety of tumors.

Fucosyltransferases
Enzymes catalyzing the transfer of fucose from a nucleoside diphosphate fucose to an acceptor molecule which is frequently another carbohydrate, a glycoprotein, or a glycolipid molecule. Elevated activity of some fucosyltransferases in human serum may serve as an indicator of malignancy. The class includes EC 2.4.1.65; EC 2.4.1.68; EC 2.4.1.69; EC 2.4.1.89.



PREVIOUS AND NEXT TERMS
--------------------------------------

Fucosyl Galactose alpha N Acetylgalactosaminyltransferase
An enzyme that catalyzes the transfer of acetylgalactosamine from UDP N-acetylgalactosamine to various 2-fucosylgalactosides as acceptors. EC 2.4.1.40.

Fucosyl Galactose Acetylgalactosaminyltransferase
An enzyme that catalyzes the transfer of acetylgalactosamine from UDP N-acetylgalactosamine to various 2-fucosylgalactosides as acceptors. EC 2.4.1.40.

Fucosidosis, Juvenile
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)

Fucosidosis Type II
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)

Fucosidosis, Infantile
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)

Fucosidosis Type I

Fucosidosis
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)

Fulminans, Purpura
A form of nonthrombocytopenic purpura due to a hypersensitivity vasculitis associated with a variety of clinical symptoms including urticaria and erythema, arthropathy and arthritis, gastrointestinal symptoms, and renal involvement.

Fulminant Meningococcal Sepsis with Adrenal Apoplexy
A condition characterized by the abrupt onset of fever, petechiae, ARTHRALGIA, weakness, and myalgias followed by acute hemorrhagic necrosis of the adrenal glands and severe cardiovascular dysfunction. The syndrome is most often associated with meningococcal septicemia but may occur as a complication of sepsis caused by other organisms, including certain STREPTOCOCCUS species. This disorder may be associated with a prior history of SPLENECTOMY. (From J Emerg Med 1998 Jul-Aug;16(4):643-7)

Fulminant Hepatic Failure with Cerebral Edema
A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); asterixis; NYSTAGMUS; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)

Fulguration, Endocavitary
Electrosurgical procedures used to treat hemorrhage (e.g., bleeding ulcers) and to ablate tumors, mucosal lesions, and refractory arrhythmias.

   We thank you for using the Health Dictionary to search for Fucosidosis Type I. If you have a better definition for Fucosidosis Type I than the one presented here, please let us know by making use of the suggest a term option. This definition of Fucosidosis Type I may be disputed by other professionals. Our attempt is to provide easy definitions on Fucosidosis Type I and any other medical topic for the public at large.
 
This dictionary contains 59020 terms.      









  
                    © Health Dictionary 2005 - All rights reserved -

   fucosidosistypei / ucosidosis type i / fcosidosis type i / fuosidosis type i / fucsidosis type i / fucoidosis type i / fucosdosis type i / fucosiosis type i / fucosidsis type i / fucosidois type i / fucosidoss type i / fucosidosi type i / fucosidosistype i / fucosidosis ype i / fucosidosis tpe i / fucosidosis tye i / fucosidosis typ i / fucosidosis typei / fucosidosis type / ffucosidosis type i / fuucosidosis type i / fuccosidosis type i / fucoosidosis type i / fucossidosis type i / fucosiidosis type i / fucosiddosis type i / fucosidoosis type i / fucosidossis type i / fucosidosiis type i / fucosidosiss type i / fucosidosis type i / fucosidosis ttype i / fucosidosis tyype i / fucosidosis typpe i / fucosidosis typee i / fucosidosis type i / fucosidosis type ii / rucosidosis type i / tucosidosis type i / gucosidosis type i / bucosidosis type i / vucosidosis type i / cucosidosis type i / ducosidosis type i / eucosidosis type i / f7cosidosis type i / f8cosidosis type i / ficosidosis type i / fkcosidosis type i / fjcosidosis type i / fhcosidosis type i / fycosidosis type i / f6cosidosis type i / fuxosidosis type i / fusosidosis type i / fudosidosis type i / fufosidosis type i / fuvosidosis type i / fu osidosis type i / fuc9sidosis type i / fuc0sidosis type i / fucpsidosis type i / fuclsidosis type i / fucksidosis type i / fucisidosis type i / fuc8sidosis type i / fucowidosis type i / fucoeidosis type i / fucodidosis type i / fucoxidosis type i / fucozidosis type i / fucoaidosis type i / fucoqidosis type i / fucosdosis type i / fucosieosis type i / fucosirosis type i / fucosifosis type i / fucosivosis type i / fucosicosis type i / fucosixosis type i / fucosisosis type i / fucosiwosis type i / fucosid9sis type i / fucosid0sis type i / fucosidpsis type i / fucosidlsis type i / fucosidksis type i / fucosidisis type i / fucosid8sis type i / fucosidowis type i / fucosidoeis type i / fucosidodis type i / fucosidoxis type i / fucosidozis type i / fucosidoais type i / fucosidoqis type i / fucosidoss type i / fucosidosiw type i / fucosidosie type i / fucosidosid type i / fucosidosix type i / fucosidosiz type i / fucosidosia type i / fucosidosiq type i / fucosidosis 5ype i / fucosidosis 6ype i / fucosidosis yype i / fucosidosis hype i / fucosidosis gype i / fucosidosis fype i / fucosidosis rype i / fucosidosis 4ype i / fucosidosis t6pe i / fucosidosis t7pe i / fucosidosis tupe i / fucosidosis tjpe i / fucosidosis thpe i / fucosidosis tgpe i / fucosidosis ttpe i / fucosidosis t5pe i / fucosidosis ty0e i / fucosidosis ty-e i / fucosidosis ty[e i / fucosidosis ty;e i / fucosidosis tyle i / fucosidosis tyoe i / fucosidosis ty9e i / fucosidosis typ3 i / fucosidosis typ4 i / fucosidosis typr i / fucosidosis typf i / fucosidosis typd i / fucosidosis typs i / fucosidosis typw i / fucosidosis type /