About The Medical Condition Disease, alpha-Fucosidase Deficiency
Find the definition of the medical term Disease, alpha-Fucosidase Deficiency. Disease, alpha-Fucosidase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Disease, alpha-Fucosidase Deficiency
| Disease, alpha-Fucosidase Deficiency Medical Condition |
|---|
What's The Definition Of The Medical Condition Disease, alpha-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
- Neoplasms, Intracranial ‐ Neoplasms of the intracranial components of the central nervous…
- Aujeszky Disease Virus ‐ A species of VARICELLOVIRUS producing a respiratory infection…
- Syndrome, Marchiafava-Micheli ‐ Disorder characterized by intravascular hemolysis and hemoglobinuria.…
- Hydrochloride, Methamphetamine ‐ A central nervous system stimulant and sympathomimetic with actions…
- Tumor, Medullary ‐ Benign and malignant intra-axial tumors of the MESENCEPHALON;…
- Massages, Heart ‐ Rhythmic compression of the heart by pressure applied manually…
- Proximal Renal Tubular Dysfunction ‐ Constellation of clinical and laboratory manifestations produced…
- Bite Force ‐ The force applied by the masticatory muscles in dental…
- HMSN Type IIs ‐ A hereditary motor and sensory neuropathy transmitted most often…
- Drug Recall ‐ Control of drug and narcotic use by international agreement,…