Definition:
Neuraminidase deficiency is a medical condition caused by insufficient amounts of neuraminidase, a glycoside hydrolase enzyme, which is known to one of the enzymes present on the surface of the Influenza virus. Deficiency of neuraminidase results to the development of a rare lysosomal storage disease called sialidosis.
Symptoms and Signs:
Symptoms may be present at birth or develop within the early years of life, which presents the following manifestations:
* Infants born with neuraminidase deficiency present excessive swelling throughout the body especially noted immediately at birth.
* Many infants born with this deficiency are born with coarse facial features including flat nasal bridge, enlarged gums, puffy eyelids, macroglossia (excessively large tongue).
* Skeletal anomalies like hip dislocation
* Myoclonus (sudden involuntary muscle contraction)
* Red spots in the eyes ( called cherry-red macules)
* Impaired voluntary movement coordination
* Tremors
* Seizure
* Impaired vision
* Clinical tests uncover liver or spleen enlargement noticeable due to abdominal swelling
* Absence or lack of muscle tone (Hypotonia)
* Severe mental retardation
* Recurrent respiratory infections
* Failure to thrive
* Most infants with this disease die before they turn 1-year-old.
Causes:
Neuraminidase deficiency is caused by inadequate amount of the enzyme neuraminidase.