Alpha fucosidase deficiency

Introduction: Alpha fucosidase deficiency

Description of Alpha fucosidase deficiency

Alpha fucosidase deficiency: Lysosome storage disease due to alpha-L-fucosidase (E.C. 3.2.1.51) deficiency in leukocytes manifested by abnormal accumulation in tissues and urinary excretion of partially catabolized oligosaccharides, glycoasparagines, and glycolipids with alpha-linked fucose at the nonreducing end of the glycogen chain. The phenotype is variable and may include delayed growth and mental development, progressive neurological deterioration, Hurler-like (mucopolysaccharidosis I-H) coarse facies, recurrent infections, visceromegaly, skeletal abnormalities, joint contractures, deafness, and angiokeratoma corporis diffusum. Several types are recognized by different researchers. The form exhibiting a longer survival, mild neurological manifestations, and angiokeratoma is sometimes referred to as fucosidosis type II. In a different scheme, three different types are recognized according to their age of onset. Types I and II are the most severe and have their onsets at 10 and 18 months, respectively with life expectancy of 6 years. Type III represents a juvenile form which is marked by a milder form of psychomotor retardation and a slower deterioration of neurological activities. Hurler-like (gargyloid) facies occur mainly in types I and II and is less commonly in type III.
Source: Diseases Database

Alpha fucosidase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Alpha fucosidase deficiency:

• Deficiency
• Deficiency disease
• Lysosome
• Storage
• Storage disease
• Leukocytes
• Abnormal
• Abnormal pain (6 causes)

Terms associated with Alpha fucosidase deficiency:

Terms Similar to Alpha fucosidase deficiency:

• Fucosidosis
• Alpha-L-fucosidase deficiency

Source: Diseases Database

The following terms can be used for Alpha fucosidase deficiency

• fucosidosis

Source: CRISP

External links related to: Alpha fucosidase deficiency

• OMIM - FUCOSIDOSIS
• Search Jablonski's Syndromes Database

Source: Diseases Database

Interesting Medical Articles:

• Symptoms of the Silent Killer Diseases
• Online Diagnosis
• Self Diagnosis Pitfalls
• Pitfalls of Online Diagnosis
• Research Your Symptoms
• Diseases & Medical Conditions
• Medical Diagnosis
• [Full list of premium articles on symptoms, diseases, and diagnosis]

Medical dictionaries:

• Medical dictionary,
• Medical Acronymns/Abbreviations

More Medical Dictionary Topics

Subtalar fusion

Find out more

Search to find out more about Alpha fucosidase deficiency:

powered by Search the Web Search rightdiagnosis.com

 » Next page: Alpha galactosidase

Medical Tools & Articles:

Tools & Services:

• Bookmark this page
• Symptom Search
• Symptom Checker
• Medical Dictionary

Medical Articles:

• Disease & Treatments Search
• Misdiagnosis Center
• Full list of interesting articles

Forums & Message Boards

• Ask or answer a question at the Boards:
• I cannot get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for my condition?
• See all the Boards.

   

Search Specialists by State and City