Sialidosis

mucolipidosis IMucolipidosis type 1neuraminidaseNeuraminidase deficiencySialidosis type 1 and 3
Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).wikipedia
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Lysosomal storage disease

lysosomal storage diseaseslysosomal storage disorderlysosomal storage disorders
Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).

Cherry-red spot

cherry red spots
Infants often develop sudden involuntary muscle contractions (called myoclonus) and have red spots in their eyes (cherry red spots).

Mucolipidosis

mucolipidosesmain mucolipidosis article
However, type I (sialidosis) is now classified as a glycoproteinosis, and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.

Sialic acid

sialic acidssialylationsialylated
The role of sialidase is to remove a particular form of sialic acid (a sugar molecule) from sugar-protein complexes (referred to as glycoproteins), which allows the cell to function properly.
Sialidosis would be an example of this type of disorder.

Neuraminidase

N2exo-a-sialidaseN
Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).

Sialidase

Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). The role of sialidase is to remove a particular form of sialic acid (a sugar molecule) from sugar-protein complexes (referred to as glycoproteins), which allows the cell to function properly.

Enzyme

enzymologyenzymesenzymatic
The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids.

Glycosaminoglycan

glycosaminoglycansmucopolysaccharidesmucopolysaccharide
The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids.

Infant

neonatalinfancynewborn
In many infants with ML I, excessive swelling throughout the body is noted at birth.

Nasal bone

nasalnasalsnasal bones
These infants are often born with coarse facial features, such as a flat nasal bridge, puffy eyelids, enlargement of the gums, and excessive tongue size (macroglossia).

Eyelid

eyelidspalpebralpalpebra
These infants are often born with coarse facial features, such as a flat nasal bridge, puffy eyelids, enlargement of the gums, and excessive tongue size (macroglossia).

Gums

gingivagumgingival
These infants are often born with coarse facial features, such as a flat nasal bridge, puffy eyelids, enlargement of the gums, and excessive tongue size (macroglossia).

Tongue

Glossusforamen cecumblade
These infants are often born with coarse facial features, such as a flat nasal bridge, puffy eyelids, enlargement of the gums, and excessive tongue size (macroglossia).

Hip

hip jointhipship-joint
Many infants with ML I are also born with skeletal malformations such as hip dislocation.

Myoclonus

myoclonicmyoclonic jerkmyoclonic jerks
Infants often develop sudden involuntary muscle contractions (called myoclonus) and have red spots in their eyes (cherry red spots).

Ataxia

gluten ataxiaataxicloss of coordination
They are often unable to coordinate voluntary movement (called ataxia).

Tremor

tremblingshakingmuscle tremor
Tremors, impaired vision, and seizures also occur in children with ML I. Tests reveal abnormal enlargement of the liver (hepatomegaly) and spleen (splenomegaly) and extreme abdominal swelling.

Epileptic seizure

seizureseizuresepileptic seizures
Tremors, impaired vision, and seizures also occur in children with ML I. Tests reveal abnormal enlargement of the liver (hepatomegaly) and spleen (splenomegaly) and extreme abdominal swelling.

Hepatomegaly

enlarged liverliver enlargementliver
Tremors, impaired vision, and seizures also occur in children with ML I. Tests reveal abnormal enlargement of the liver (hepatomegaly) and spleen (splenomegaly) and extreme abdominal swelling.

Splenomegaly

enlarged spleenhypersplenismspleen
Tremors, impaired vision, and seizures also occur in children with ML I. Tests reveal abnormal enlargement of the liver (hepatomegaly) and spleen (splenomegaly) and extreme abdominal swelling.

Abdomen

abdominalabdominal musclesbelly
Tremors, impaired vision, and seizures also occur in children with ML I. Tests reveal abnormal enlargement of the liver (hepatomegaly) and spleen (splenomegaly) and extreme abdominal swelling.

Hypotonia

low muscle tonefloppy infant syndromepoor muscle tone
Infants with ML I generally lack muscle tone (hypotonia) and have mental retardation that is either initially or progressively severe.

Respiratory system

respiratoryrespirationrespiratory organs
Many patients suffer from failure to thrive and from recurrent respiratory infections.

Glycoprotein

glycoproteinsmembrane glycoproteinprotein
The role of sialidase is to remove a particular form of sialic acid (a sugar molecule) from sugar-protein complexes (referred to as glycoproteins), which allows the cell to function properly.