May 27, 2016 · Sialidosis, also known as mucolipidosis type I, is a rare inherited metabolic disorder characterized by a deficiency of the enzyme neuraminidase (sometimes referred to as sialidase). Deficiency of neuraminidase results in the abnormal accumulation of toxic materials in the body. Sialidosis is divided into two types (i.e., type I and type II).

Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). [1] . The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids.

Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.

Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. Sialidosis type II, the more severe type of the disorder, is further divided into congenital, infantile, and juvenile forms.

Sialidosis is a rare autosomal recessive lysosomal storage disease (approximate prevalence of 1/5,000,000-1/1,500,000 live births) caused by a deficiency of neuraminidase (sialidase) due to mutations in the NEU1 gene located on chromosome 6p21.3 [1].

Sialidosis, an autosomal recessive disorder, occurs due to a structural defect in the neuraminidase gene and is characterized by abnormal tissue accumulation as well as urinary excretion of sialylated oligosaccharides and glycolipids [1].

Understanding the nuances of sialidosis is crucial for effective diagnosis and management. Know the symptoms, genetic factors, causes, diagnostic methods and treatment options for sialidosis.

We share scientific breakthroughs, clinical trial information, and resources for families affected by this rare genetic disorder. Learn how you can support ongoing research through donations, fundraising, and advocacy efforts to help bring hope to those living with sialidosis.

Aug 1, 2020 · Sialidosis is divided into two clinical entities, depending on residual enzyme activity, and can be distinguished according to age of onset, clinical features, and progression. Type 1 sialidosis is the milder, late-onset form, also known as non-dysmorphic sialidosis.

Sialidosis is a rare autosomal recessive lysosomal disorder from NEU1 mutations. Type I features cherry-red spots and myoclonus in young adults, while Type II presents early severe systemic symptoms.