Mannosidosis
Medical condition / From Wikipedia, the free encyclopedia
Dear Wikiwand AI, let's keep it short by simply answering these key questions:
Can you list the top facts and stats about Mannosidosis?
Summarize this article for a 10 year old
SHOW ALL QUESTIONS
Mannosidosis is a deficiency in mannosidase, an enzyme.[1] There are two types: alpha-mannosidosis and beta-mannosidosis. Both disorders are related to the lysosome and have similar presentation; the former is caused by defective lysosomal α-mannosidase and the latter by defective lysosomal β-mannosidase. In both cases, the defect causes accumulation of oligosaccharides rich in mannose[2] in the neural tissue and organ tissue.[3] Both alpha- and beta-mannosidosis are known to result from autosomal recessive genetic mutations.[4]
Quick Facts Specialty ...
Mannosidosis | |
---|---|
Electron micrograph of a vacuolated lymphocyte from a mannosidosis patient (A) as compared to a lymphocyte from a normal control (B). | |
Specialty | Pediatrics, endocrinology |
Close