What does galactosialidosis mean?
Definitions for galactosialidosis
galac·tosiali·do·sis
This dictionary definitions page includes all the possible meanings, example usage and translations of the word galactosialidosis.
Wiktionary
galactosialidosisnoun
A form of sialidosis
Wikipedia
Galactosialidosis
Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is a genetic lysosomal storage disease. It is caused by a mutation in the CTSA gene which leads to a deficiency of enzymes β-galactosidase and neuraminidase. This deficiency inhibits the lysosomes of cells from functioning properly, resulting in the accumulation of toxic matter within the cell. Hallmark symptoms include abnormal spinal structure, vision problems, coarse facial features, hearing impairment, and intellectual disability. Because galactosialidosis involves the lysosomes of all cells, it can affect various areas of the body, including the brain, eyes, bones, and muscles. Depending on the patient's age at the onset of symptoms, the disease consists of three subtypes: early infantile, late infantile, and juvenile/adult. This condition is considered rare, with most cases having been in the juvenile/adult group of patients.
Wikidata
Galactosialidosis
Galactosialidosis is a lysosomal storage disease. It is associated with cathepsin A.
Numerology
Chaldean Numerology
The numerical value of galactosialidosis in Chaldean Numerology is: 4
Pythagorean Numerology
The numerical value of galactosialidosis in Pythagorean Numerology is: 4
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"galactosialidosis." Definitions.net. STANDS4 LLC, 2024. Web. 26 Apr. 2024. <https://www.definitions.net/definition/galactosialidosis>.
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