Conditions / Genetic

glycoproteinosis

info · Genetic

A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).

Signs and symptoms

Reduced tissue neuraminidase activity
Inguinal hernia
Dysmetria
Short stature
Facial edema
Seizure
Hypotonia
Slurred speech
Hepatomegaly
Cherry red spot of the macula

Also known as: Mucolipidosis type I; sialidosis