Neuraminidase deficiency with beta-galactosidase deficiency
Definition
Neuraminidase deficiency with beta-galactosidase deficiency, commonly-known as galactosialidosis, is a rare inherited metabolic disorder with multiple symptoms that can include skeletal abnormalities, mental retardation, and progressive neurological degeneration.
Description
Neuraminidase deficiency with beta-galactosidase deficiency, or galactosialidosis, is a very rare genetic disorder with progressive signs and symptoms that are almost identical to those of neuraminidase deficiency alone, a disorder that is often called sialidosis. These symptoms can include skeletal and facial abnormalities, seizures, vision and hearing loss, cardiac and kidney problems, and mental retardation. However, as with sialidosis, the severity of the symptoms of galactosialidosis vary greatly.
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